NationMaster - Encyclopedia: Gilbert's syndrome

Gilbert's 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, caused by elevated levels of unconjugated bilirubin in the bloodstream (hyperbilirubinemia). Image File history File links Bilirubin. ... Bilirubin is a yellow breakdown product of normal heme catabolism. ... 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). ... // E00-E35 - Endocrine diseases (E00-E07) Disorders of thyroid gland (E00) Congenital iodine-deficiency syndrome (E01) Iodine-deficiency-related thyroid disorders and allied conditions (E02) Subclinical iodine-deficiency hypothyroidism (E03) Other hypothyroidism (E030) Congenital hypothyroidism with diffuse goitre (E031) Congenital hypothyroidism without goitre (E032) Hypothyroidism due to medicaments and other... 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. ... 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 Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... For the scientific journal Heredity see Heredity (journal) Heredity (the adjective is hereditary) is the transfer of characters from parent to offspring, either through their genes or through the social institution called inheritance (for example, a title of nobility is passed from individual to individual according to relevant customs and... Bilirubin is a yellow breakdown product of normal heme catabolism. ... Look up jaundice in Wiktionary, the free dictionary. ... Jaundice, technically known as icterus, is yellowing of the skin, sclera (eyes) and mucous membranes caused by increased levels of bilirubin in the system. ...

The source of this hyperbilirubinemia is reduced activity of the enzyme glucuronyltransferase which conjugates bilirubin and some other lipophilic molecules. Conjugation renders the bilirubin water-soluble, after which it is excreted in bile into the duodenum. Ribbon diagram of the enzyme TIM, surrounded by the space-filling model of the protein. ... A chemically conjugated system, is a system of atoms covalently bonded with alternating single and double bonds (e. ... Bile (or gall) is a bitter, yellow or green alkaline fluid secreted by hepatocytes from the liver of most vertebrates. ... In anatomy of the digestive system, the duodenum is a hollow jointed tube about 25-30 cm long connecting the stomach to the jejunum. ...

Eponym

Gilbert's syndrome was first described by French gastroenterologist Augustin Nicolas Gilbert and co-workers in 1901.^[1]^[2] Gastroenterology or Gastrology might be better described as the field of digestive diseases, which are traditionally separated by anatomic or functional category. ... Augustin Nicolas Gilbert (February 15, 1858 - March 4, 1927) was a French physician who was born in the town of Buzancy. ... Year 1901 (MCMI) was a common year starting on Tuesday (link will display calendar) of the Gregorian calendar (or a common year starting on Monday [1] of the 13-day-slower Julian calendar). ...

In German literature, it is commonly associated with Jens Einar Meulengracht.^[3]

Pathogenesis

Gilbert's syndrome is caused by approximately 30%-50% reduced glucuronidation activity of the enzyme Uridine-diphosphate-glucuronosyltransferase isoform 1A1 (UGT1A1).^[4]^[5] The gene which encodes UGT1A1 normally has a promoter region TATA box containing the allele A(TA₆)TAA. Gilbert's syndrome is associated with homozygous A(TA₇)TAA alleles.^[6] The allele polymorphism is referred to as UGT1A1*28. Example of glucuronidation Glucuronidation of alcohols and acids Glucuronidation is a major inactivating pathway for a huge variety of exogenous and endogenous molecules, including drugs, polluants, bilirubin, androgens, estrogens, mineralocorticoids, glucocorticoids, fatty acid derivatives, retinoids and bile acids. ... Uridine 5-diphospho-glucuronosyltransferase (UDP-glucuronosyltransferase, UGT) is a naturally-occurring enzyme (EC 2. ... for disambiguation of the term promoter, see the promoter Wiktionary article In genetics, a promoter is a DNA sequence that enables a gene to be transcribed. ... A TATA box (also called Goldberg-Hogness box)[1] is a DNA sequence (Cis-regulatory element) found in the promoter region of most genes (it is considered to be the core promoter sequence) in eukaryotes [2]. It is the binding site of either transcription factors or histones (binding of a... For the hard rock band, see Allele (band). ... Homozygote cells are diploid or polyploid and have the same alleles at a locus (position) on homologous chromosomes. ...

Signs and symptoms

Gilbert's syndrome produces an elevated level of unconjugated bilirubin in the bloodstream but normally has no serious consequence. Mild jaundice may appear under conditions of exertion, stress, fasting, and infections, but the condition is otherwise asymptomatic. ^[7]^[8] For other uses, see Blood (disambiguation). ... Look up jaundice in Wiktionary, the free dictionary. ...

Gilbert's syndrome also reduces the liver's ability to detoxify certain drugs. For example, Gilbert's syndrome is associated with severe diarrhea and neutropenia in patients who are treated with irinotecan, which is metabolized by UGT1A1.^[9] The liver is the largest internal organ in the human body, and is an organ present in vertebrates and some other animals. ... Detox, short for detoxification, in general is the removal of toxic substances from the body. ... Neutropenia (or neutropaenia, adjective neutrop(a)enic) is a hematological disorder characterized by an abnormally low number of neutrophil granulocytes (a type of white blood cell). ... Irinotecan is a chemotherapy agent that is a topoisomerase 1 inhibitor. ...

While paracetamol (acetaminophen) is not metabolized by UGT1A1,^[10] it is metabolized by one of the other enzymes also deficient in some people with GS.^[11]^[12] A subset of people with GS may have an increased risk of paracetamol toxicity.^[12]^[13] Paracetamol (INN) (IPA: ) or acetaminophen (USAN), is the active metabolite of phenacetin, a so-called coal tar analgesic. ...

Diagnosis

While this syndrome is considered harmless, it is clinically important because it may be confused with much more dangerous liver conditions. However, these will show other indicators of liver dysfunction. Hemolysis can be excluded by a full blood count, haptoglobin, lactate dehydrogenase levels and the absence of reticulocytosis (elevated reticulocytes in the blood would usually be observed in haemolytic anaemia). Liver biopsy is rarely necessary. The onset of GS is often in childhood or early adulthood. {{otheruses4|1=medical hemoglobin]] into the surrounding fluid (plasma, in vivo). ... Lactate dehydrogenase (LDH) is an enzyme (EC 1. ... A biopsy (in Greek: bios = life and opsy = look/appearance) is a medical test involving the removal of cells or tissues for examination. ... Brain biopsy A biopsy (in Greek: bios = life and opsy = look/appearance) is a medical test involving the removal of cells or tissues for examination. ...

Normal levels of total bilirubin (conjugated and unconjugated) are under 20 mmol/dL. Patients with GS show predominantly elevated unconjugated bilirubin, while conjugated is usually in normal ranges and form less than 20% of the total. Levels of bilirubin in GS patients should be between 20 mmol/dl and 80 mmol/dl (or, divided by 17.1 to express these numbers in mg/dL, between 1.17 and 4.68 mg/dL). GS patients will have a ratio of unconjugated/conjugated (indirect/direct) bilirubin that is commensurately higher than those without GS. Other liver enzymes are expected to be similar between patients with and without GS. Complete liver enzyme tests are ordered in order to assure the correct diagnosis.

The level of total bilirubin is often increased if the blood sample is taken while fasting, and a fast can therefore be useful diagnostically. If the total bilirubin does in fact increase while fasting, the patient can then be given low doses of phenobarbital when fasting has ended, and following samples should show a decrease in total bilirubin toward normal levels. Fasting is primarily the act of willingly abstaining from some or all food, drink, or both, for a period of time. ...

More severe types of glucoronyl transferase disorders like GS are Crigler-Najjar syndrome (types I and II). These are much more severe and cause brain damage in infancy (type I) and teenage years (type II). Crigler-Najjar syndrome is a disorder of bilirubin metabolism. ...

Edit = (Normal reference range of bilirubin is between 3-17 micro mol/L not mmol/dL)

Synonyms

See also

Crigler-Najjar syndrome is a disorder of bilirubin metabolism. ... 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. ...

References

Who Named It is a Norwegian database of several thousand eponymous medical signs and the doctors associated with their identification. ... Who Named It is a Norwegian database of several thousand eponymous medical signs and the doctors associated with their identification. ...

External links

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. ... 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. ... Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of amino acid metabolism. ... Propionic acidemia is an inherited disorder of inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy. ... 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. ... 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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 improper 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. ... 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. ... 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 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. ... 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. ... 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 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. ... 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. ... 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 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 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 bodyâ€™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 Farberâ€™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. ... 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. ... Neuronal Ceroid Lipofuscinoses (NCL, also known as Batten disease) is a broad term used to refer to a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumlation of lipopigments, such as lipofuscin, in the bodys tissues. ... 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 Wolmanâ€™s disease, Wolmanâ€™s syndrome, and acid lipase deficiency) is a rare severe lipid storage disease that is usually fatal at a very young age. ... 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, familial hypercholesterolemia is a rare disease characterised by very high LDL cholesterol and early cardiovascular disease running in families. ... 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) ... 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... 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. ... Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. ... 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. ... 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. ... 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. ... Mitochondrial trifunctional protein deficiency is a rare inherited condition that prevents the body from converting certain fats to energy, particularly during periods without food . ... 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. ... Retinol (one vitamer of Vitamin A) A vitamin is an organic compound required as a nutrient in tiny amounts by an organism. ... 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. ... 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. ... 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. ... 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. ... 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, 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. ... 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... 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. ... 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. ... 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. ... 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. ... Crigler-Najjar syndrome is a disorder of bilirubin metabolism. ... 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. ... 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 bodyâ€™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 ... 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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