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Neuronal Ceroid Lipofuscinoses (NCL, also known as Batten Disease) is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumlation of lipopigments (lipofuscin) in the body's tissues. These lipopigments are made up of fats and proteins. Their name comes from the technical word lipo, which is short for "lipid" or fat, and from the term pigment, used because they take on a greenish-yellow color when viewed under an ultraviolet light microscope. The lipopigments build up in cells of the brain and the eye as well as in skin, muscle, and many other parts. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ...
The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ...
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The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ...
The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ...
MedlinePlus (medlineplus. ...
eMedicine is an online clinical medical knowledge base that was founded in 1996. ...
Batten disease is a rare, fatal, inherited disease of the nervous system (neurodegenerative disorder) that begins in childhood. ...
For other uses, see Family (disambiguation). ...
Neurodegenerative disease is a condition which affects the brain function. ...
Lipofuscin is the name given to brown pigment granules composed of lipid-containing residues of lysosomal digestion. ...
History
The first probable instances of this condition were reported in 1826 in a Norwegian medical journal by Dr. Christian Stengel, who described 4 affected siblings in a small mining community in Norway. Although no pathological studies were performed on these children the clinical descriptions are so succinct that the diagnosis of the Spielmeyer-Sjogren (juvenile) type is fully justified.
More fundamental observations were reported by F. E. Batten in 1903, and by Heinrich Vogt in 1905, who performed extensive clinicopathological studies on several families. Retrospectively, these papers disclose that the authors grouped together different types of the syndrome. Furthermore Batten, at least for some time, insisted that the condition that he described was distinctly different from Tay-Sachs disease, the prototype of a neuronal lysosomal disorder now identified as GM2 gangliosidosis type A. Around the same time, Spielmeyer reported detailed studies on three siblings, suffering from the Spielmeyer-Sjogren (juvenile) type, which led him to the very firm statement that this malady is not related to Tay-Sachs disease. Subsequently, however, the pathomorphological studies of Schaffer made these authors change their minds to the extent that they reclassified their respective observations as variants of Tay-Sachs disease, which caused confusion lasting about 50 years. Frederick Eustace Batten (September 29, 1865 – 1918) was an English neurologist and pediatrician who has been referred to as the father of pediatric neurology. ...
Heinrich Vogt (1875-04-23, Regensburg – 1936, Bad Pyrmont) was a German neurologist. ...
Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis, Hexosaminidase A deficiency or Sphingolipidosis) is a genetic disorder, fatal in its most common variant known as Infantile Tay-Sachs disease. ...
Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis) is a fatal genetic disorder, inherited in an autosomal recessive pattern, in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain. ...
In 1913-14, M. Bielschowsky delineated the late infantile form of NCL. However, all forms were still thought to belong in the group of "familial amaurotic idiocies", of which Tay-Sachs was the prototype.
In 1931, Torben Sjogren, the Swedish psychiatrist and geneticist, presented 115 cases with extensive clinical and genetic documentation and came to the conclusion that the disease which we now call the Spielmeyer-Sjogren (juvenile) type is genetically separate from Tay-Sachs.
Departing from the careful morphological observations of Spielmeyer, Hurst, and Sjovall and Ericsson, Zeman and Alpert made a determined effort to document the previously suggested pigmentary nature of the neuronal deposits in certain types of storage disorders. Simultaneously, Terry and Korey and Svennerholm demonstrated a specific ultrastructure and biochemistry for Tay-Sachs disease, and these developments led to the distinct identification and also separation of the NCLs from Tay-Sachs disease by Zeman and Donahue. At that time, it was proposed that the Late Infantile (Jansky-Bielschowsky), the juvenile (Spielmeyer-Vogt), and the adult form (Kufs) were quite different from Tay-Sachs disease with respect to chemical pathology and ultrastructure and also different from other forms of sphingolipidoses. Sphingolipidoses are a class of disorders relating to Sphingolipid metabolism. ...
Subsequently, it was shown by Santavuori and Haltia that an infantile form of NCL exists, which Zeman and Dyken had included with the Jansky Bielschowsky type.
Forms There are four main types of NCL, including two forms that begin earlier in childhood and a very rare form that strikes adults. The symptoms are similar but they become apparent at different ages and progress at different rates. - Type 1 - Infantile NCL (Santavuori-Haltia disease, INCL, CLN1 Online 'Mendelian Inheritance in Man' (OMIM) 256730): begins between about 6 months and 2 years of age and progresses rapidly. Affected children fail to thrive and have abnormally small heads (microcephaly). Also typical are short, sharp muscle contractions called myoclonic jerks. Initial signs of this disorder include delayed psychomotor development with progressive deterioration, other motor disorders, or seizures. The infantile form has the most rapid progression and children live into their mid childhood years. The gene responsible for Infantile NCL has been identified in some cases of juvenile/adult onset. It is thought these patients have some partial enzyme production that leads to a protracted, less severe disease course.
- Type 2 - Late Infantile NCL (Jansky-Bielschowsky disease, LINCL, CLN2 Online 'Mendelian Inheritance in Man' (OMIM) 204500) begins between ages 2 and 4. The typical early signs are loss of muscle coordination (ataxia) and seizures along with progressive mental deterioration, though afflicted children may show mild-severe delays in speech development well before other symptoms appear. This form progresses rapidly and ends in death between ages 8 and 12.
- Type 3 - Juvenile NCL (Batten disease, JNCL, CLN3 Online 'Mendelian Inheritance in Man' (OMIM) 204200) begins between the ages of 5 and 8 years of age. The typical early signs are progressive vision loss, seizures, ataxia or clumsiness. This form progresses less rapidly and ends in death in the late teens or early 20s, although some may live into their 30s.
- Type 4 - Adult NCL (Kufs disease or Parry's disease, ANCL, CLN4 Online 'Mendelian Inheritance in Man' (OMIM) 204300) generally begins before the age of 40, causes milder symptoms that progress slowly, and does not cause blindness. Although age of death is variable among affected individuals, this form does shorten life expectancy.
There are at least four additional diseases included in the Batten Disease/NCL group: The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
For other uses, see Ataxia (disambiguation). ...
Batten disease is a rare, fatal, inherited disease of the nervous system (neurodegenerative disorder) that begins in childhood. ...
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
- Type 5 - Finnish Late Infantile (Finish Late Infantile Variant, vLINCL, CLN5 (Online 'Mendelian Inheritance in Man' (OMIM) 256731) - identified in Finland.
- Type 8 - Turkish Late Infantile (Turkish Late Infantile Variant,vLINCL, CLN7 (Online 'Mendelian Inheritance in Man' (OMIM) 600143) - identified in Turkey.
- Northern Epilepsy/ERMP - (Epilepsy with Mental Retardation, CLN8) - identified in Finland.
- Type 6 - Variant Late Infantile (Late Infantile Variant, vLINCL, CLN6)(Online 'Mendelian Inheritance in Man' (OMIM) 601780)- identified in Costa Rica, South America, Portugal, the United Kingdom and other nations.
- Type 9 - (Online 'Mendelian Inheritance in Man' (OMIM) 609055)-potentially identified in Germany and Serbia.
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
Incidence, Causes, Diagnoses Batten disease/NCL is relatively rare, occurring in an estimated 2 to 4 of every 100,000 births in the United States. The diseases have been identified worldwide. Although NCLs are classified as rare diseases, they often strike more than one person in families that carry the defective gene. Batten disease is a rare, fatal, inherited disease of the nervous system (neurodegenerative disorder) that begins in childhood. ...
For other uses, see Gene (disambiguation). ...
Childhood NCLs are autosomal recessive disorders; that is, they occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry one defective gene, each of their children faces one in four chance of developing NCL. At the same time, each child also faces a one in two chance of inheriting just one copy of the defective gene. Individuals who have only one defective gene are known as carriers, meaning they do not develop the disease, but they can pass the gene on to their own children. It has been suggested that this article or section be merged into Dominance relationship. ...
For other uses, see Gene (disambiguation). ...
Adult NCL may be inherited as an autosomal recessive (Kufs) or, less often, as an autosomal dominant (Parry's) disorder . In autosomal dominant inheritance, all people who inherit a single copy of the disease gene develop the disease. As a result, there are no unaffected carriers of the gene. In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ...
It has been suggested that this article or section be merged into Dominance relationship. ...
It has been suggested that this article or section be merged into Dominance relationship. ...
This article or section does not adequately cite its references or sources. ...
For other uses, see Gene (disambiguation). ...
Because vision loss is often an early sign, Batten disease/NCL may be first suspected during an eye exam. An eye doctor can detect a loss of cells within the eye that occurs in the three childhood forms of Batten disease/NCL. However, because such cell loss occurs in other eye diseases, the disorder cannot be diagnosed by this sign alone. Often an eye specialist or other physician who suspects Batten disease/NCL may refer the child to a neurologist, a doctor who specializes in disease of the brain and nervous system. In order to diagnose Batten disease/NCL, the neurologist needs the patient's medical history and information from various laboratory tests.
Diagnostic tests used for Batten disease/NCLs include:
- Skin or tissue sampling. The doctor can examine a small piece of tissue under an electron microscope. The powerful magnification of the microscope helps the doctor spot typical NCL deposits. These deposits are found in many different tissues, including skin, muscle, conjunctiva, rectal and others. Blood can also be used.
- Electroencephalogram or EEG. An EEG uses special patches placed on the scalp to record electrical currents inside the brain. This helps doctors see telltale patterns in the brain's electrical activity that suggest a patient has seizures.
- Electrical studies of the eyes. These tests, which include visual-evoked responses (VER) and electroretinograms (ERG), can detect various eye problems common in childhood Batten disease/NCLs.
- Brain scans. Imaging can help doctors look for changes in the brain's appearance. The most commonly used imaging technique is computed tomography (CT), which uses x-rays and a computer to create a sophisticated picture of the brain's tissues and structures. A CT scan may reveal brain areas that are decaying in NCL patients. A second imaging technique that is increasingly common is magnetic resonance imaging, or MRI. MRI uses a combination of magnetic fields and radio waves, instead of radiation, to create a picture of the brain.
- Enzyme assay. A recent development in diagnosis of Batten disease/NCL is the use of enzyme assays that look for specific missing lysosomal enzymes for infantile and late infantile only. This is a quick and easy diagnostic test.
An electron microscope is a type of microscope that uses electrons as a way to illuminate and create an image of a specimen. ...
Electroencephalography is the neurophysiologic exploration of the electrical activity of the brain by the application of electrodes to the scalp. ...
Electroretinography, is used to measure the electrical responses of various cell types in the retina, including the light-sensitive cells (rods and cones) and the ganglion cells. ...
negron305 Cat scan redirects here. ...
MRI redirects here. ...
Treatment Currently there is no widely accepted treatment that can cure, slow down, or halt the symptoms of NCL. However, seizures may be controlled or reduced with use of anti-epileptic drugs. Additionally, physical, speech, and occupational therapies may help affected patients retain functioning for as long as possible.
Research Within the United States Federal Government, the focal point for research on Batten Disease and other neurogenetic disorders is the National Institute of Neurological Disorders and Stroke (NINDS). The NINDS, a part of the National Institutes of Health (NIH), is responsible for supporting and conducting research on the brain and central nervous system. The Batten Disease Support and Research Association and the Children's Brain Diseases Foundation also provide financial assistance for research. National Institutes of Health Building 50 at NIH Clinical Center - Building 10 The National Institutes of Health (NIH) is an agency of the United States Ministry of Health and Human Services and is the primary agency of the United States government responsible for biomedical and health-related research. ...
Through the work of several scientific teams, the search for the genetic cause of NCLs is gathering speed In September 1995, The International Batten Disease Consortium announced the identification of the gene for the juvenile form of Batten Disease. The specific gene, CLN3, located on Chromosome 16, has a deletion or piece missing. This gene accounts for 73% of all cases of Juvenile Batten Disease. The rest are the result of other defects of the same gene.
Also, in 1995, scientists in Finland announced the identification of the gene responsible for the infantile form of Batten Disease. The gene, CLN1, is located on Chromosome 1.
In September 1997, scientists at the Robert Woos Johnson Medical School and the Institute for Basic Research, NY, announced the identification of the gene for the "classic" Late Infantile form of Batten Disease/NCL. The gene, CLN2, is located on chromosome 11.
Scientists have also identified the gene responsible for Finnish Late Infantile (CLN5), variant Late Infantile (CLN6) and EPMR (CLN8). Research also continues toward identification of the gene for the adult form of Batten Disease/NCL, also known as Kufs Disease.
Identification of the specific genes for Infantile, Late Infantile, Variant Late Infantile and Juvenile Batten Disease/NCL has led to the development of DNA diagnostics, carrier and prenatal tests.
Scientists have discovered that the Infantile and Late Infantile diseases are missing key lysosomal enzymes, i.e. Palmitoyl Protein Thioesterase 1 (PPT1) for Infantile and Tripeptidyl Peptidase 1 (TPP1) for Late Infantile. Knowing that these enzymes are missing is now leading to the development of gene replacement and stem cell transplantation therapies.
Recent studies have shown a link between the Juvenile form and the body's autoimmune system. Although this link is not yet fully understood, it may eventually lead to a treatment.
Experimental Treatments With recent advances in genetics research there is, for the first time, actual hope for treatment for several forms of NCL.
In 2001 it was reported a drug used to treat cystinosis, a rare genetic disease that can cause kidney failure if not treated, may be useful in treating the infantile form of NCL. Preliminary results report the drug has completely cleared away storage material from the white blood cells of the first six patients, as well as slowing down the rapid neurodegeneration of infantile NCL. It is preliminarily shown that the addition of another drug seems to be more effective than Cystagon alone and all patients on the trials, including the first six, are being put on this drug. Currently there are two drug trials underway for infantile Batten disease/NCL. Both trials are using the drug Cystagon. For additional information regarding this trial, contact the Batten Disease Support and Research Association. Cystinosis is a hereditary disorder of the renal tubules characterized by the presence of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium ions and phosphates. ...
In late infantile NCL research a controversial gene therapy trial, funded by several families gathered together under Nathan's Battle Foundation, started in June 2004. As a phase I trial trying to establish the safety of the gene therapy, the trial has been limited to eleven children and, so far, eight children have been treated. The trial was temporarily halted when the fourth child treated died after the having the procedure in November 2004. However, it is thought the actual gene therapy was not the cause of the child's death and the trial has since resumed, with subsequent patients reported to be doing well with surgical recovery. However the child's death has led to a reluctance of the doctors treating patients to operate on any more patients that are severely afflicted with late infantile NCL. This reluctance is now leading to possible legal action by a family whose child has been denied treatment after intitally promised a spot in the trial and having his surgery dates pushed back several times.
Media coverage of the trial, as well as information to the scientific community in general, has been very limited. However, several newspaper articles suggest that MRI scans show the therapy has been successful in halting, though not reversing, the progress of this disease. Nathan and P.J. Milto, among the first of the treated children and the sons of the Nathan's Battle Foundation founder, are reported to have no further progression of their disease and stable neurological status, though both remain severely handicapped. With less severely afflicted children now being treated, however, there is reason to hope and see if the late infantile NCL Gene Therapy Transfer could be an effective way of slowing or halting the progress of this condition.
In October 2005 three-year-old Jasmine Harris of London, England became the healthiest child to be treated in the late infantile NCL Gene Therapy trial so far. Due to an older brother, Jordan, being previously diagnosed with late infantile NCL in early 2003 after almost two years of deteriorating cognitive and motor skills Jasmine, though presyptomatic, was also tested for the disease at the end of 2003 and found to be positive for the condition at the age of twenty months. Although Jasmine has suffered several seizures and experienced a deterioration in her speech in the past year, MRI scans of her brain are reported to still be normal, and there is hope the treatment will prevent her from experiencing any more neurological degeneration. It will be months, even years, before scientists will fully know of the treatment has been successful in sparing Jasmine Harris the ravages of LINCL.
Additionally, a painkiller available in several European countries, Flupirtine, has been suggested to possibly slow down the progress of NCL, particularly in the juvenile and late infantile forms. No trial has been officially supported in this venue, however. Currently the drug is available to NCL families either from Germany, Duke University Medical Center in Durham, North Carolina, and the Hospital for Sick Children in Toronto, Ontario. Nickname: Location in North Carolina Coordinates: , Country State Counties Durham, Orange, Wake Government - Mayor Bill Bell Area - City 94. ...
On October 20, 2005, the Food and Drug Administration approved a phase I clinical trial of neural stem cells to treat infantile and late infantile Batten disease. Subsequent approval from an independent review board also approved the stem cell therapy in early March 2006. This treatment will be the first ever transplant of fetal stem cells performed on humans. The therapy is being developed by Stem Cells Inc and is estimated to have six patients. The treatment will be carried out in Oregon.
Juvenile NCL has recently been listed on the Federal Clinical Trials website to test the effectiveness of bone marrow/stem cell transplants for this condition. A bone marrow transplant has been attempted in the late infantile form of NCL with disappointing results; while the transplant may have slowed the onset of the disease, the child eventually developed the disease and died in 1998. Trials testing the effectiveness of bone marrow transplants for infantile NCL in Finland have also been disappointing, with only a slight slowing of disease reported.
In late 2007, it was reported by Dr. David Pearce et al that Cellcept, an immunosuppressent medication commonly used in bone marrow transplants, may be useful in slowing down the progress of Juvenile NCL. Fundraising is currently underway to gather the funds needed to start a clinical trial to test the safety and efficentcy of CellCept for Juvenile NCL.
References - Santavuori P, Lauronen L, Kirveskari K, Åberg L, Sainio K (2000). "Neuronal ceroid lipofuscinoses in childhood". Suppl Clin Neurophysiol 53: 443-51. PMID 12741032.
- Cooper JD (2003). "Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis". Curr Opin Neurol 16 (2): 121-8. PMID 12644737.
- Haltia M (2003). "The neuronal ceroid-lipofuscinoses". J Neuropathol Exp Neurol 62 (1): 1-13. PMID 12528813.
- Gardiner RM (2002). "Clinical features and molecular genetic basis of the neuronal ceroid lipofuscinoses". Adv Neurol 89: 211-5. PMID 11968447.
External links | Amino acid metabolic pathology (E70-72, 270) | | Amino acid/Organic acidemia | Aromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia, Urocanic aciduria) Branched-chain (Hypervalinemia, Isovaleric acidemia, Maple syrup urine disease, Methylmalonic acidemia, Propionic acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) This article is about the class of chemicals. ...
This article is about the class of chemicals. ...
phenylalanine tryptophan tyrosine thyroxine Aromatic amino acids are amino acids which include an aromatic ring. ...
Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). ...
Alkaptonuria (black urine disease, alcaptonuria or ochronosis) is a rare inherited genetic disorder of tyrosine metabolism. ...
Ochronosis is a dermatological disorder that results in the adverse pigmentation of cartilage from a long term buildup of phenylalanine or tyrosine. ...
Tyrosinemia (or Tyrosinaemia) is an error of metabolism, usually inborn, in which the body can not effectively break down the amino acid tyrosine, found in most animal and plant proteins. ...
Albino redirects here. ...
Histidinemia is a rare autosomal recessive metabolic disorder characterized by a deficiency of the enzyme histidase. ...
Isovaleric acidemia is a rare genetic disorder in which the body is unable to process certain proteins properly. ...
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of amino acid metabolism. ...
Methylmalonic acidemia (MMA) is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia. ...
Propionic acidemia is an inherited disorder of inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy. ...
3-methylcrotonyl-CoA carboxylase deficiency is an inherited disorder in which the body is unable to process certain proteins properly. ...
2-Hydroxyglutaric aciduria - IBD deficiency - SSADHD Succinic semialdehyde dehydrogenase (SSADH) deficiency, also known as 4-hydoxybutyric aciduria or gamma-hydoxybutyric aciduria, is a rare disorder of GABA metabolism caused by a lack of the enzyme succinic semialdehyde dehydrogenase . ...
Straight-chain (Hyperlysinemia, Pipecolic acidemia, Saccharopinuria) Hyperlysinemia is a group of hereditary disorders characterized by an abnormal increase of lysine in the blood and associated with mental retardation, convulsions, and anemia. ...
Saccharopinuria (an excess of saccharopine in the urine) is a variant form of hyperlysinemia caused by a partial enzyme deficiency. ...
Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome, Oculocerebrorenal syndrome, Lysinuric protein intolerance) Ë Cystinuria is an inherited autosomal recessive disorder and is characterized by the formation of cystine stones in the kidneys, ureter, and bladder. ...
Cystinosis is a hereditary disorder of the renal tubules characterized by the presence of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium ions and phosphates. ...
Hartnup disease, or Hartnups disease, or Hartnup disorder, is a genetic metabolic disorder in the absorption of the amino acid tryptophan that leads to the insufficent production of nicotinamide. ...
Fanconi Syndrome (also known as Fanconis syndrome) is a disorder in which the proximal tubular function of the kidney is impaired, resulting in decreased reabsorption of electrolytes and nutrients back into the bloodstream. ...
Oculocerebrorenal syndrome (also called Lowe syndrome) is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets. ...
Lysinuric protein intolerance (LPI), also named hyperdibasic aminoaciduria type 2 or familial protein intolerance, is an autosomal recessive disorder of diamino acid transport. ...
Sulfur (Cystathioninuria, Hawkinsinuria, Homocystinuria, Hypermethioninemia) Cystathioninuria is the condition of an excess of cystathionine in the urine. ...
Homocystinuria, also known as Cystathionine beta synthase deficiency, is inherited disorder of the metabolism of the amino acid methionine. ...
Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency/translocase deficiency, Citrullinemia, Argininosuccinic aciduria, Argininemia, Hyperammonemia) What is a Urea Cycle Disorder? A urea cycle disorder is a genetic disorder caused by a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. ...
N-Acetylglutamate synthase deficiency is a urea cycle disorder. ...
Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood. ...
Ornithine transcarbamylase deficiency (OTC), the most common of the Urea Cycle Disorders, is a rare metabolic disorder, occurring in one out of every 40000 births. ...
Ornithine translocase deficiency is a rare inherited disorder that causes ammonia to accumulate in the blood. ...
Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. ...
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. ...
Hyperammonemia is a metabolic disturbance characterised by an excess of ammonia in the blood. ...
Glutaric acidemia type 1, type 2 - Hyperprolinemia - Prolidase deficiency - Sarcosinemia Glutaric acidemia type 2 is an genetic disorder that is characterised by defects in the bodys ability to use proteins and fats for energy. ...
Sarcosinemia is characterized by an increased concentration of sarcosine in blood plasma and urine. ...
Other Beta-ketothiolase deficiency - Glutathione synthetase deficiency - Glycine encephalopathy - GAMT deficiency - Tetrahydrobiopterin deficiency - Trimethylaminuria | | Carbohydrate metabolic pathology (E73-74, 271) | | Carbohydrate | Lactose intolerance Glycogen storage disease (type I, type II, type III, type IV, type V, type VI, type VII) Beta-ketothiolase deficiency is an uncommon inherited disorder in which the body cannot properly process the amino acid isolecine or the products of lipid breakdown. ...
Glutathione synthetase deficiency is a rare is a disorder that prevents the production of glutathione. ...
Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or NKH, is a genetic disorder characterized by abnormally high levels of the amino acid glycine. ...
Tetrahydrobiopterin deficiency (also known as BH4 deficiency) is a rare disorder that increases the blood levels of a substance called phenylalanine. ...
Trimethylamine, also known as NMe3, N(CH3)3, and TMA, is a colorless, hygroscopic, and flammable simple amine with a typical fishy odor in low concentrations and an ammonia-like odor in higher concentrations. ...
Lactose is a disaccharide found in milk. ...
Lactose is a disaccharide found in milk. ...
Glycogen storage disease is any one of several inborn errors of metabolism that result from enzyme defects that affect the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. ...
Glycogen storage disease type I or von Gierkes disease, is the most common of the glycogen storage diseases. ...
Glycogen storage disease type II (also called Pompe disease or infantile acid maltase deficiency) is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA), which is needed to break down glycogen, a stored form of sugar used for energy. ...
Glycogen storage disease type III is characterized by a deficiency in glycogen debranching enzymes. ...
Glycogen storage disease type IV is a very rare hereditary metabolic disorder. ...
Glycogen storage disease type V is a metabolic disorder, more specifically a glycogen storage disease, caused by a deficiency of myophosphorylase, the muscle isoform of the enzyme glycogen phosphorylase. ...
Glycogen storage disease type VI is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase. ...
Phosphofructokinase deficiency, also known as Taruis disease[1], is a metabolic disorder with autosomal recessive inheritance, in which deficiency of the M subunit of the phosphofructokinase enzyme impairs the ability of cells such as erythrocytes and rhabdomyocytes to use carbohydrates (such as glucose) for energy. ...
fructose] metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) Fructose (also levulose or laevulose) is a simple reducing sugar (monosaccharide) found in many foods and is one of the three most important blood sugars along with glucose and galactose. ...
Fructose intolerance is a hereditary condition due to a deficiency of liver enzymes that metabolise fructose. ...
Fructose bisphosphatase (EC 3. ...
Essential fructosuria is a condition caused by a deficiency in hepatic fructokinase. ...
galactose metabolism (Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) Galactose (also called brain sugar) is a type of sugar found in dairy products, in sugar beets and other gums and mucilages. ...
Galactosemia is a rare genetic metabolic disorder which affects an individuals ability to properly digest the sugar galactose. ...
Galactose-1-phosphate uridylyltransferase galactosemia (or type 1) is the most common type of galactosemia. ...
Galactokinase deficiency, also known as Galactosemia type 2 or GALK deficiency, is marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. ...
other intestinal carbohydrate absorption (Glucose-galactose malabsorption, Sucrose intolerance) Glucose-galactose malabsorption is a condition in which the cells lining the intestine cannot take in the sugars glucose and galactose, which prevents proper digestion of these molecules and larger molecules made from them. ...
Sucrose intolerance, also called Congenital Sucrase-Isomaltase Deficiency (CSID) or Sucrase-isomaltase deficiency , is the condition in which sucrase, an enzyme needed for proper metabolization of sucrose, is not produced in the small intestine. ...
pyruvate metabolism and gluconeogenesis (PCD, PDHA) Pyruvate (CH3COCOO−) is the ionized form of pyruvic acid. ...
Pyruvic acid Oxaloacetic acid Phosphoenolpyruvate Fructose 1,6-bisphosphate Fructose 6-phosphate Glucose-6-phosphate Glucose Gluconeogenesis is the generation of glucose from non-sugar carbon substrates like pyruvate, lactate, glycerol, and amino acids (primarily alanine and glutamine). ...
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. ...
Pyruvate Dehydrogenase Deficiency (PDHA) is a human genetic disease. ...
Pentosuria - Renal glycosuria | | Metabolic pathology: Fatty acid metabolism/lipidemias (E78 and E71.3, 272) | | Lipoprotein/lipidemias | Hyperlipidemia/Hypercholesterolemia/Hypertriglyceridemia (Familial hypercholesterolemia, Combined hyperlipidemia) - Xanthoma | | Lipoprotein deficiency | Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia - Hypobetalipoproteinemia | | Fatty acid metabolism deficiency | Adrenoleukodystrophy - Malonic aciduria Acyl CoA dehydrogenase (Short-chain, Medium-chain, Long-chain 3-hydroxy, Very long-chain) Pentosuria is a condition where xylulose (a pentose) presents in the urine in unusually high concentrations. ...
Renal glycosuria, also known as renal glucosuria, is a rare condition in which the simple sugar glucose is excreted in the urine despite normal or low blood glucose levels. ...
Lipid storage disorders (or lipidoses) are a group of inherited metabolic disorders in which harmful amounts lipids (fats) accumulate in some of the body’s cells and tissues. ...
Sphingolipidoses are a class of disorders relating to Sphingolipid metabolism. ...
Ganglioside is a compound composed of a glycosphingolipid (ceramide and oligosaccharide) with one or more sialic acids (AKA n-acetylneuraminic acid) linked on the sugar chain. ...
The GM2 gangliosidoses cause the body to store excess acidic fatty materials in tissues and cells, most notably in nerve cells. ...
GM2-gangliosidosis, AB variant is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. ...
Sandhoff disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. ...
Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis, Hexosaminidase A deficiency or Sphingolipidosis) is a genetic disorder, fatal in its most common variant known as Infantile Tay-Sachs disease. ...
The GM1 gangliosidoses are caused by a deficiency of beta-galactosidase, with resulting abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells. ...
Mucolipidosis type IV (ML IV) is caused by harmful alterations of a protein in the cell that is believed to be involved in the movement of molecules such as calcium across cell membranes. ...
Gauchers disease (IPA: ) is the most common of the lysosomal storage diseases. ...
Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain. ...
Farber disease (also known as Farber’s lipogranulomatosis or ceramidase deficiency) describes a group of rare autosomal recessive disorders that cause an accumulation of fatty material in the joints, tissues and central nervous system. ...
Fabry disease (also known as Anderson-Fabry disease, Angiokeratoma corporis diffusum, Ceramide trihexosidosis, and Sweeley-Klionsky disease) is an X-linked recessive inherited lysosomal storage disease. ...
Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. ...
Metachromatic leukodystrophy (MLD) is the most common form of a family of genetic diseases known as the leukodystrophies, diseases which affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibres throughout the central and peripherial nervous systems . ...
Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. ...
Batten disease is a rare, fatal, inherited disease of the nervous system (neurodegenerative disorder) that begins in childhood. ...
Cerebrotendineous xanthomatosis (or cerebrotendinous xanthomatosis, with one fewer e, or Van Bogaert-Scherer-Epstein syndrome, or cerebrotendinous cholesterosis) is a form of xanthomatosis associated with the CYP27A1 gene on chromosome 2. ...
Cholesteryl ester storage disease is an extremely rare disorder that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. ...
Wolman disease (also known as Wolman’s disease, Wolman’s syndrome, and acid lipase deficiency) is a rare severe lipid storage disease that is usually fatal at a very young age. ...
Chondroitin sulfate Hyaluronan Glycosaminoglycans (GAGs) or mucopolysaccharides are long unbranched polysaccharides consisting of a repeating disaccharide unit. ...
The mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. ...
Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I) or Hurlers disease, is a genetic disorder that results in the deficiency of alpha-L iduronidase, which is an enzyme that breaks down mucopolysaccharides. ...
Hunter syndrome, or mucopolysaccharoidosis Type II, is a lysosomal storage disease caused by a deficient (or absent) enzyme, iduronate-2-sulfatase (I2S). ...
Sanfillipo syndrome is a lysosomal storage disorder resulting from a deficiency in the lysosomal enzyme heparan-N-sulfatase. ...
Morquio syndrome (referred to as mucopolysaccharidosis IV or Morquios) is a mucopolysaccharide storage disease. ...
Mucopolysaccharidosis VI (or Maroteaux-Lamy disease) is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B (ARSB). ...
Mucopolysaccharidosis Type VII or Sly syndrome (named after its discoverer William Sly in 1969) is also sometimes called MPS. The defective gene lies on chromosome 7. ...
N-linked protein glycosylation (N-glycosylation of N-glycans) at Asn residues (Asn-x-Ser/Thr motifs) in glycoproteins[1]. Glycoproteins are proteins that contain oligosaccharide chains (glycans) covalently attached to their polypeptide backbones. ...
α-mannosidosis is a genetic disorder that causes progressive mental and physical deterioration. ...
Aspartylglucosaminuria is a glycoprotein metabolism disorder caused by a lack of aspartylglucosaminidase (AGA). ...
Aspartylglycosaminuria is an inborn error of metabolism caused by deficient activity of the enzyme aspartylglucosaminidase. ...
Fucosidosis is an autosomal recessive disease in which fucosidase is not properly used in the cells to break fucose. ...
ML II is also referred to as inclusion-cell (I-cell) disease because waste products, thought to include carbohydrates, lipids, and proteins, accumulate into masses known as inclusion bodies. ...
Mucolipidoses (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. ...
Symptoms of ML III are often not noticed until the child is 3-5 years of age. ...
Salla disease (or Finnish type sialuria) is a syndrome leading to early physical impairment and mental retardation. ...
Categories: Possible copyright violations ...
It has been suggested that this article or section be merged with Inborn error of metabolism. ...
Hypercholesterolemia (literally: high blood cholesterol) is the presence of high levels of cholesterol in the blood. ...
Hypercholesterolemia (literally: high blood cholesterol) is the presence of high levels of cholesterol in the blood [1]. It is not a disease but a metabolic derangement that can be secondary to many diseases and can contribute to many forms of disease, most notably cardiovascular disease. ...
In medicine, hypertriglyceridemia (or Hypertriglyceridaemia) denotes high (hyper-) blood levels (-emia) of triglycerides, the most abundant fatty molecule in most organisms. ...
In medicine, familial hypercholesterolemia is a rare disease characterised by very high LDL cholesterol and early cardiovascular disease running in families. ...
In medicine, combined hyperlipidemia (or -aemia) is a commonly occurring form of hypercholesterolemia (elevated cholesterol levels) characterised by increased LDL and triglyceride concentrations, often accompanied by decreased HDL. On lipoprotein electrophoresis (a test now rarely performed) is shows as a hyperlipoproteinemia type IIB. The elevated triglyceride levels (>5 mmol/l...
A xanthoma is a deposition of cholesterol-rich material in tendons and other body parts in various disease states: Tendon xanthomas (associated with familial hypercholesterolemia, cerebrotendineous xanthomatosis and phytosterolemia) Palmar xanthomas Eruptive xanthomas See also xanthelasma Categories: Stub | Sign (medicine) ...
A lipoprotein is a biochemical assembly that contains both proteins and lipids. ...
Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is a disorder of lipoprotein metabolism. ...
Tangier disease is a rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as good cholesterol, in the bloodstream. ...
Abetalipoproteinemia is a rare genetic disorder (autosomal recessive) that interferes with the normal absorption of fat and fat soluble vitamins from food. ...
This article or section is in need of attention from an expert on the subject. ...
Adrenoleukodystrophy (ALD) (also known as Schilders Disease and Sudanophilic Leukodystrophy) is a rare inherited disorder that leads to progressive brain damage, failure of the adrenal gland and eventually death. ...
Acyl CoA dehydrogenase is the enzyme used to catalyze the first step of β-oxidation in Fatty acid metabolism. ...
Medium-chain acyl-coenzyme A dehydrogenase deficiency is one of a group of conditions that is associated with inborn errors of metabolism in fatty acid oxidation. ...
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, often shortened to LCHAD deficiency is a rare genetic disorder that prevents the body from converting certain fats to energy, particularly during periods of fasting. ...
Very long-chain acyl-coenzyme A dehydrogenase deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food. ...
Carnitine (Primary, I, II, -acylcarnitine) This article or section contains information that has not been verified and thus might not be reliable. ...
Primary carnitine deficiency is a condition that prevents the body from using fats for energy, particularly during periods without food. ...
Carnitine palmitoyltransferase I deficiency is a rare condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. ...
Carnitine palmitoyltransferase II deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. ...
Carnitine-acylcarnitine translocase deficiency is a rare condition that prevents the body from converting long-chain fatty acids into energy, particularly during periods without food. ...
fatty acid oxidation: Mitochondrial trifunctional protein deficiency | | Other | Smith-Lemli-Opitz syndrome | | Purine, pyrimidine, porphyrin, bilirubin metabolic pathology (E79-80, 277.1-277.2, 277.4) | | Purine and pyrimidine | Adenine phosphoribosyltransferase deficiency - Dihydropyrimidine dehydrogenase deficiency - Hyperuricemia - Lesch-Nyhan syndrome - Purine nucleoside phosphorylase deficiency - Xanthinuria | | Porphyrin | Acute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate | | Bilirubin | Unconjugated (Lucey-Driscoll syndrome, Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome) | | Mineral metabolic pathology (E83, 275) | | Mineral | Cu Wilson's disease/Menkes disease Fe Haemochromatosis, Aceruloplasminemia, Atransferrinemia Mitochondrial trifunctional protein deficiency is a rare inherited condition that prevents the body from converting certain fats to energy, particularly during periods without food . ...
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. ...
Purine (1) is a heterocyclic aromatic organic compound, consisting of a pyrimidine ring fused to an imidazole ring. ...
Pyrimidine is a heterocyclic aromatic organic compound similar to benzene and pyridine, containing two nitrogen atoms at positions 1 and 3 of the six-member ring [1]. It is isomeric with two other forms of diazine. ...
2,8 dihydroxy-adenine urolithiasis (also called adenine phosphoribosyltransferase deficiency) is an autosomal recessive disorder resulting in accumulation and urinary excretion of the insoluble purine 2,8-dihydroxyadenine. ...
Hyperuricemia is the presence of high levels of uric acid in the blood. ...
-1...
Purine nucleoside phosphorylase deficiency is a rare congenital immunodeficiency of purine nucleoside phosphorylase. ...
Xanthines are a group of alkaloids that are commonly used for their effects as mild stimulants and as bronchodilators, notably in treating the symptoms of asthma. ...
Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ...
Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by a deficiency of the enzyme, porphobilinogen deaminase (PBG-D), also known as uroporphyrinogen I-synthase. ...
Gunthers disease is a form of erythropoietic porphyria. ...
The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ...
The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ...
Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in the gene which codes Uroporphyrinogen III decarboxylase (UROD). ...
The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ...
The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ...
Bilirubin is a yellow breakdown product of normal heme catabolism. ...
Gilberts syndrome, often shortened to the acronym GS, is the most common hereditary cause of increased bilirubin, and is found in up to 5% of the population (though some Gastroenterologists maintain that it is closer to 10%). The main symptom is otherwise harmless jaundice which does not require treatment...
Crigler-Najjar Syndrome or CNS is a rare disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of blood. ...
Dubin-Johnson syndrome is an autosomal recessive disease which presents shortly after birth with an increase of conjugated bilirubin without elevation of liver enzymes (ALT, AST). ...
Rotor syndrome is a rare, benign autosomal recessive disorder of unknown origin. ...
mccall is cooool Dietary minerals are the chemical elements required by living organisms, other than the four elements carbon, hydrogen, nitrogen, and oxygen which are present in common organic molecules. ...
Wilsons disease or hepatolenticular degeneration is an autosomal recessive hereditary disease, with an incidence of about 1 in 30,000 in most parts of the world and a male preponderance. ...
Menkes disease, also called the kinky hair disease or Menkes kinky hair syndrome, is a disease of abnormal copper metabolism. ...
Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper dietary iron metabolism (making it an iron overload disorder), which causes the accumulation of iron in a number of body tissues. ...
Aceruloplasminemia is inherited in an autosomal recessive fashion. ...
2-year old Violet, a young European girl with atransferrinemia. ...
Zn Acrodermatitis enteropathica Acrodermatitis enteropathica is an autosomal recessive disorder characterized by periorificial (around the natural orifices) and acral (in the limbs) dermatitis, alopecia (loss of hair), and diarrhea. ...
PO43− Hypophosphatemia/Hypophosphatasia Hypophosphatemia is an electrolyte disturbance in which there is an abnormally depleted level of phosphate in the blood. ...
Hypophosphatasia is a rare inherited metabolic disease of decreased tissue nonspecific alkaline phosphatase (TNSALP) and defective bone mineralization. ...
Mg2+ Hypermagnesemia/Hypomagnesemia Hypermagnesemia is an electrolyte disturbance in which there is an abnormally elevated level of magnesium in the blood. ...
Hypomagnesemia is an electrolyte disturbance in which there is an abnormally low level of magnesium in the blood. ...
Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism Hypercalcaemia (or Hypercalcemia) is an elevated calcium level in the blood. ...
In medicine, hypocalcemia is the presence of low serum calcium levels in the blood, usually taken as less than 2. ...
Disorders of calcium metabolism occur when the body has too little or too much calcium. ...
Biotin Biotinidase deficiency, Holocarboxylase synthetase deficiency | | Fluid, electrolyte, acid base metabolic pathology (E86-E87, 276) | Fluid, electrolyte
and acid-base balance | Electrolyte disturbance Na+ Hypernatremia/Hyponatremia Biotin, also known as vitamin H or B7 and C10H16N2O3S (Biotin; Coenzyme R, Biopeiderm), is a water-soluble B-complex vitamin which is composed of an ureido ring fused with a tetrahydrothiophene ring. ...
Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. ...
An electrolyte is any substance containing free ions that behaves as an electrically conductive medium. ...
The text or formatting below is generated by a template which has been proposed for deletion. ...
Electrolyte disturbance refers to an abnormal change in the levels of electrolytes in the body. ...
Hypernatremia is an electrolyte disturbance consisting of an elevated sodium level in the blood (compare to hyponatremia, meaning a low sodium level). ...
The electrolyte disturbance hyponatremia or hyponatraemia exists in humans when the sodium level in the plasma falls below 135 mmol/l. ...
Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance For acidosis referring to acidity of the urine, see renal tubular acidosis. ...
In medicine, metabolic acidosis is a state in which the blood pH is low (under 7. ...
Respiratory acidosis is acidosis (abnormal acidity of the blood) due to decreased ventilation of the pulmonary alveoli, leading to elevated arterial carbon dioxide concentration. ...
Lactic acidosis is a condition caused by the buildup of lactic acid in the body. ...
Alkalosis refers to a condition reducing hydrogen ion concentration of arterial blood plasma. ...
Metabolic alkalosis results from altered metabolism. ...
Respiratory alkalosis results from increased alveolar respiration (hyperventilation) leading to decreased plasma carbon dioxide concentration. ...
In a Mixed disorder of acid-base balance more than one of the following is occurring in the patient at the same time: acidosis metabolic acidosis respiratory acidosis alkalosis metabolic alkalosis respiratory alkalosis The patient can have an acidosis and alkosis at the same time that partially counteract each other...
H2O Dehydration/Hypervolemia Dehydration (hypohydration) is the removal of water (hydro in ancient Greek) from an object. ...
Hypervolemia (or Fluid overload) is the medical condition where there is too much fluid in the body. ...
K+ Hypokalemia/Hyperkalemia Hypokalemia is a potentially fatal condition in which the body fails to retain sufficient potassium to maintain health. ...
Hyperkalemia is an elevated blood level (above 5. ...
Cl− Hyperchloremia/Hypochloremia | Hyperchloremia is an electrolyte disturbance in which there is an abnormally elevated level of the chloride ion in the blood. ...
Hypochloremia is an electrolyte disturbance in which there is an abnormally depleted level of the chloride ion in the blood. ...
A metabolic disorder is a medical disorder which affects the production of energy within individual human (or animal) cells. ...
A renal cell carcinoma (chromophobe type) viewed on a hematoxylin & eosin stained slide Pathologist redirects here. ...
Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. ...
Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by defective production of alpha 1-antitrypsin, deficient activity in the blood and lungs, and deposition of excessive amounts of abnormal A1AT protein in liver cells. ...
Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ...
Acatalasia (or Takaharas disease) is a peroxisomal disorder caused by a catalase deficiency. ...
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