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In medicine, metabolic acidosis is a state in which the blood pH is low (under 7.35) due to increased production of H+ by the body or the inability of the body to form bicarbonate (HCO3-) in the kidney. Its causes are diverse, and its consequences can be serious, including coma and death. Together with respiratory acidosis, it is one of the two general types of acidosis. Image File history File links No higher resolution available. ...
In acid base physiology, the Davenport Diagram is a graphical tool, developed by Horace Davenport, that allows a clinician or investigator to describe blood bicarbonate concentrations and blood pH following a respiratory and/or metabolic acid-base disturbance. ...
The International Statistical Classification of Diseases and Related Health Problems (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 codes are used with International Statistical Classification of Diseases and Related Health Problems. ...
// 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 (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 Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ...
MedlinePlus (medlineplus. ...
eMedicine is an online clinical medical knowledge base that was founded in 1996. ...
medicines, see medication and pharmacology. ...
The correct title of this article is . ...
This article is about the chemistry of hydrogen. ...
In inorganic chemistry, a bicarbonate (IUPAC-recommended nomenclature: hydrogencarbonate) is an intermediate form in the deprotonation of carbonic acid. ...
It has been suggested that Renal anomalies and Renal plasma threshold be merged into this article or section. ...
In medicine, a coma (from the Greek koma, meaning deep sleep) is a profound state of unconsciousness. ...
This article or section does not cite its references or sources. ...
Respiratory acidosis is acidosis (abnormal acidity of the blood) due to decreased ventilation of the pulmonary alveoli, leading to elevated arterial carbon dioxide concentration. ...
Acidosis is an increased acidity (i. ...
Signs and symptoms Symptoms are aspecific, and diagnosis can be difficult unless the patient presents with clear indications for arterial blood gas sampling. Symptoms may include chest pain, palpitations, headache, altered mental status, decreased visual acuity, nausea, vomiting, abdominal pain, altered appetite (either loss of or increased) and weight loss (longer term), muscle weakness and bone pains. Those in metabolic acidosis may exhibit deep, rapid breathing called Kussmaul respirations which is classically associated with diabetic ketoacidosis. Rapid deep breaths increase the amount of carbon dioxide exhaled, thus lowering the serum carbon dioxide levels, resulting in a compensatory respiratory alkalosis. Arterial blood gas measurement is a blood test that is performed to determine the concentration of oxygen, carbon dioxide and bicarbonate, as well as the pH, in the blood. ...
In medicine, chest pain is a symptom of a number of serious conditions and is generally considered a medical emergency, unless the patient is a known angina pectoris sufferer and the symptoms are familiar (appearing at exertion and resolving at rest, known as stable angina). // Causes Cardiopulmonary Important cardiovascular and...
A palpitation is an abnormal, rapid beating of the heart, brought on by overexertion, disease or drugs. ...
A headache is a condition of pain in the head; sometimes neck or upper back pain may also be interpreted as a headache. ...
For other uses, see Nausea (disambiguation). ...
Vomiting (also throwing up or emesis) is the forceful expulsion of the contents of ones stomach through the mouth and sometimes the nose. ...
Abdominal pain can be one of the symptoms associated with transient disorders or serious disease. ...
Weight loss, in the context of medicine or health, is a reduction of the total body weight, which can mean loss of fluid, muscle or bone mass, or fat. ...
Kussmaul breathing is the rapid, deep, and labored breathing of people who have acidosis. ...
Ketoacidosis is a type of metabolic acidosis which is caused by high concentrations of keto acids, formed by the deamination of amino acids. ...
Extreme acidosis leads to neurological and cardiac complications:
Physical examination occasionally reveals signs of disease, but is otherwise normal. Cranial nerve abnormalities are reported in ethylene glycol poisoning, and retinal edema can be a sign of methanol (methyl alcohol) intoxication. Longstanding chronic metabolic acidosis leads to osteoporosis and can cause fractures. In medicine, a coma (from the Greek koma, meaning deep sleep) is a profound state of unconsciousness. ...
This article is about the medical term, epileptic seizure, as distinct from psychogenic non-epileptic seizure. ...
A cardiac arrhythmia, also called cardiac dysrhythmia, is a disturbance in the regular rhythm of the heartbeat. ...
Tachycardia is an abnormally rapid beating of the heart, defined as a resting heart rate of over 100 beats per minute. ...
Adrenaline redirects here. ...
In physiology and medicine, hypotension refers to an abnormally low blood pressure. ...
In medicine, the physical examination or clinical examination is the process by which the physician investigates the body of a patient for signs of disease. ...
Cranial nerves are nerves which start directly from the brainstem instead of the spinal cord. ...
Ethylene glycol (monoethylene glycol (MEG), IUPAC name: ethane-1,2-diol) is an alcohol with two -OH groups (a diol), a chemical compound widely used as an automotive antifreeze. ...
Human eye cross-sectional view. ...
Edema (American English) or oedema (British English), formerly known as dropsy or hydropsy, is swelling of any organ or tissue due to accumulation of excess lymph fluid, without an increase of the number of cells in the affected tissue. ...
Methanol, also known as methyl alcohol, wood alcohol or wood spirits, is a chemical compound with chemical formula CH3OH. It is the simplest alcohol, and is a light, volatile, colourless, flammable, poisonous liquid with a distinctive odor that is somewhat milder and sweeter than ethanol (ethyl alcohol). ...
Osteoporosis is a disease of bone in which the bone mineral density (BMD) is reduced, bone microarchitecture is disrupted, and the amount and variety of non-collagenous proteins in bone is altered. ...
For fractures in geologic formations, see Rock fracture. ...
Diagnosis Arterial blood gas sampling is essential for the diagnosis. The pH is low (under 7.35) and the bicarbonate levels are decreased (<12 mmol/l). In respiratory acidosis (low blood pH due to decreased clearance of carbon dioxide by the lungs), the bicarbonate is elevated, due to increased conversion from H2CO3. An ECG can be useful to anticipate cardiac complications. Arterial blood gas measurement is a blood test that is performed to determine the concentration of oxygen, carbon dioxide and bicarbonate, as well as the pH, in the blood. ...
Respiratory acidosis is acidosis (abnormal acidity of the blood) due to decreased ventilation of the pulmonary alveoli, leading to elevated arterial carbon dioxide concentration. ...
Carbon dioxide is a chemical compound composed of one carbon and two oxygen atoms. ...
Respiratory system The lungs flank the heart and great vessels in the chest cavity. ...
ECG may also refer to the East Coast Greenway Lead II An Electrocardiogram (ECG or EKG, abbreviated from the German Elektrokardiogramm) is a graphic produced by an electrocardiograph, which records the electrical voltage in the heart in the form of a continuous strip graph. ...
Other tests that are relevant in this context are electrolytes (including chloride), glucose, renal function and a full blood count. Urinalysis can reveal acidity (salicylate poisoning) or alkalinity (renal tubular acidosis type I). In addition, it can show ketones in ketoacidosis. An electrolyte is a substance containing free ions which behaves as an electrically conductive medium. ...
The chloride ion is formed when the element chlorine picks up one electron to form an anion (negatively-charged ion) Cl−. The salts of hydrochloric acid HCl contain chloride ions and are also called chlorides. ...
Glucose (Glc), a monosaccharide (or simple sugar), is the most important carbohydrate in biology. ...
In medicine (nephrology) renal function is an indication of the state of the kidney and its role in physiology. ...
A full blood count (FBC) or complete blood count (CBC) is a test requested by a doctor or other medical professional that gives information about the cells in a patients blood. ...
Salicylic acid is a colorless, crystalline organic carboxylic acid. ...
To distinguish between the main types of metabolic acidosis, a clinical tool called the anion gap is considered very useful. It is calculated by subtracting the chloride and bicarbonate levels from the sodium plus potassium levels. The anion gap is used to aid in the differential diagnosis of metabolic acidosis. ...
Anion gap = ( [Na+]+[K+] ) - ( [Cl-]+[HCO3-] )
As sodium is the main extracellular cation, and chloride and bicarbonate are the main anions, the result should reflect the remaining anions. Normally, this concentration is about 8-16 mmol/l. An elevated anion gap (i.e. > 16 mmol/l) can indicate particular types of metabolic acidosis, particularly certain poisons, lactate acidosis and ketoacidosis.
As the differential diagnosis is narrowed down, certain other tests may be necessary, including toxicological screening and imaging of the kidneys. In medicine, differential diagnosis (sometimes abbreviated DDx or ΔΔ) is the systematic method physicians use to identify the disease causing a patients symptoms. ...
Causes The causes are best grouped by their influence on the anion gap: The anion gap is used to aid in the differential diagnosis of metabolic acidosis. ...
Increased anion gap Causes incluce: The mnemomic MUDPILES is commonly used to remember the causes of Increased anion gap metabolic acidosis.[1][2] Lactic acidosis is a condition caused by the buildup of lactic acid in the body. ...
Ketoacidosis is a type of metabolic acidosis which is caused by high concentrations of keto acids, formed by the deamination of amino acids. ...
In inorganic chemistry, a sulfate (IUPAC-recommended spelling; also sulphate in British English) is a salt of sulfuric acid. ...
Above is a ball-and-stick model of the inorganic hydrogenphosphate anion (HPO42−). Colour coding: P (orange); O (red); H (white). ...
This article or section is in need of attention from an expert on the subject. ...
An organic acid is an organic compound that is an acid. ...
Salicylic acid is a colorless, crystalline organic carboxylic acid. ...
Ethanol, also known as ethyl alcohol or grain alcohol, is a flammable, colorless, slightly toxic chemical compound with a distinctive perfume-like odor, and is the alcohol found in alcoholic beverages. ...
Methanol, also known as methyl alcohol, wood alcohol or wood spirits, is a chemical compound with chemical formula CH3OH. It is the simplest alcohol, and is a light, volatile, colourless, flammable, poisonous liquid with a distinctive odor that is somewhat milder and sweeter than ethanol (ethyl alcohol). ...
The chemical compound formaldehyde (also known as methanal) is a gas with a pungent smell. ...
Ethylene glycol (monoethylene glycol (MEG), IUPAC name: ethane-1,2-diol) is an alcohol with two -OH groups (a diol), a chemical compound widely used as an automotive antifreeze. ...
Paraldehyde is the cyclic form of three acetaldehyde molecules (a trimer). ...
INH Stands for Inset Name Here, a spam forum on the Transformers discussion board www. ...
Toluene, also known as methylbenzene or phenylmethane is a clear, water-insoluble liquid with the typical smell of paint thinners, redolent of the sweet smell of the related compound benzene. ...
Sulfate is the IUPAC name for the SO42- ion, consisting of a central sulfur atom single bonded to four tetrahedrally oriented oxygen atoms. ...
Metformin (INN, trade names Glucophage, Diabex, Diaformin, Fortamet, Riomet, Glumetza and others) is an anti-diabetic drug from the biguanide class (its other members are the withdrawn agents phenformin and buformin). ...
Rhabdomyolysis is the breakdown of skeletal muscle due to injury, either mechanical, physical or chemical. ...
- M-Methanol
- U-Uremia
- D-Diabetic Ketoacidosis
- P-Paraldehyde
- I-Infection, Iron, Isoniazid
- L-Lactic acidosis
- E-Ethylene Glycol, Ethanol
- S-Salicylates
Normal anion gap Causes include:[3] It bears noting that the anion gap can be spuriously normal in sampling errors of the sodium level, e.g. in extreme hypertriglyceridemia. The anion gap can be increased due to relatively low levels of cations other than sodium and potassium (e.g. calcium or magnesium). Types 5-7 on the Bristol Stool Chart are often associated with diarrhea Diarrhea (in American English) or diarrhoea (in British English) is a generally unpleasant condition in which the sufferer has frequent watery, loose bowel movements (from the ancient Greek word διαÏÏοή = leakage; literally meaning to run through). Acute infectious...
A pancreatic fistula is an abnormal communication between the pancreas (actually pancreatic duct) and the exterior of the body via the abdominal wall. ...
Hyperchloremic acidosis is a form of Metabolic acidosis associated with a normal anion gap, a decrease in bicarbonate, and in increase in chloride. ...
Ammonium chloride or Sal Ammoniac (chemically ammonium chloride (NH4Cl); also nushadir salt, zalmiak, sal armagnac, sal armoniac, salmiakki, salmiak and salt armoniack) is, in its pure form, a clear white water-soluble crystalline salt with a biting taste. ...
Acetazolamide, sold under the trade name Diamox®, is a carbonic anhydrase inhibitor that is used to treat glaucoma, epileptic seizures, benign intracranial hypertension and altitude sickness. ...
In pharmacology, bile acid sequestrants a group of medication used for binding bile in the gastrointestinal tract. ...
Renal failure is the condition in which the kidneys fail to function properly. ...
In medicine, hypertriglyceridemia (or Hypertriglyceridaemia) denotes high (hyper-) blood levels (-emia) of triglycerides, the most abundant fatty molecule in most organisms. ...
Pathophysiology
Compensatory mechanisms Metabolic acidosis is either due to increased generation of acid or an inability to generate sufficient bicarbonate. The body regulates the acidity of the blood by four buffering mechanisms. The Bicarbonate buffering system is the most important buffer for mantaining a relatively constant pH in the plasma. ...
In cell biology, molecular biology and related fields, the word intracellular means inside the cell. It is used in contrast to extracellular (outside the cell). ...
Respiratory compensation is a mechanism by which plasma pH can be altered by varying the respiratory rate. ...
Renal compensation is a mechanism by which the kidneys can regulate the plasma pH. It is slower than respiratory compensation, but has a greater ability to restore normal values. ...
Buffer The decreased bicarbonate that distinguishes metabolic acidosis is therefore due to two separate processes: the buffer (from water and carbon dioxide) and additional renal generation. The buffer reactions are: - H+ + HCO3- <--> H2CO3 <--> CO2 + H2O
The Henderson-Hasselbalch equation mathematically describes the relationship between blood pH and the components of the bicarbonate buffering system: The Henderson-Hasselbalch (frequently misspelled Henderson-Hasselbach) equation in chemistry describes the derivation of pH as a measure of acidity (using pKa, the acid dissociation constant) in biological and chemical systems. ...
- pH=pKa + log [HCO3-]/[CO2]
- Using Henry's Law, we can say that [CO2]=0.03xPaCO2
- (PaCO2 is the pressure of CO2 in arterial blood)
- Adding the other normal values, we get
- pH = 6.1 + log (24/0.03x40)
- = 6.1 + 1.3
- = 7.4
Treatment A pH under 7.1 is an emergency, due to the risk of cardiac arrhythmias, and may warrant treatment with intravenous bicarbonate. Bicarbonate is given at 50-100 mmol at a time under scrupulous monitoring of the arterial blood gas readings. This intervention however, is not effective in case of lactic acidosis. Cardiac arrhythmia is a group of conditions in which the muscle contraction of the heart is irregular or is faster or slower than normal. ...
Lactic acidosis is a condition caused by the buildup of lactic acid in the body. ...
If the acidosis is particularly severe and/or there may be intoxication, consultation with the nephrology team is considered useful, as dialysis may clear both the intoxication and the acidosis. Nephrology is the branch of internal medicine dealing with the study of the function and diseases of the kidney. ...
In medicine, dialysis is a type of renal replacement therapy which is used to provide an artificial replacement for lost kidney function due to renal failure. ...
References - ^ Mnemonic at medicalmnemonics.com 1203 3255
- ^ http://fitsweb.uchc.edu/student/selectives/TimurGraham/Anion_Gap.html
- ^ Mnemonic at medicalmnemonics.com 2001
amino-acids Phenylketonuria - Alkaptonuria - Ochronosis - Tyrosinemia - Maple syrup urine disease - Propionic acidemia - Methylmalonic acidemia - Isovaleric acidemia - Primary carnitine deficiency - Cystinuria - Cystinosis - Hartnup disease - Homocystinuria - Citrullinemia - Hyperammonemia - Glutaric acidemia type 1
carbohydrates Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V), Fructose intolerance, Galactosemia
Lipid storage disorders Sphingolipidoses: Gangliosidosis - GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease
Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Wolman disease - Cholesteryl ester storage disease
List of fatty acid metabolism disorders - Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia
mineral metabolism Cu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO43- Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia/Hypomagnesemia - Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism
fluid, electrolyte and acid-base balance Electrolyte disturbance - Na+ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H2O Dehydration/Hypervolemia - K+ Hypokalemia/Hyperkalemia - Cl- Hyperchloremia/Hypochloremia
porphyrin and bilirubin Acatalasia - Gilbert's syndrome - Crigler-Najjar syndrome - Dubin-Johnson syndrome - Rotor syndrome - Porphyria (Acute intermittent porphyria, Gunther's disease, Porphyria cutanea tarda, Erythropoietic protoporphyria, Hepatoerythropoietic porphyria, Hereditary coproporphyria, Variegate porphyria)
Wikiquote has a collection of quotations related to: English mnemonics A mnemonic (pronounced in Received Pronunciation) is a memory aid, and most serve an educational purpose. ...
Wikiquote has a collection of quotations related to: English mnemonics A mnemonic (pronounced in Received Pronunciation) is a memory aid, and most serve an educational purpose. ...
A metabolic disorder is a medical disorder which affects the production of energy within individual human (or animal) cells. ...
Pathology (from Greek pathos, feeling, pain, suffering; and logos, study of; see also -ology) is the study of the processes underlying disease and other forms of illness, harmful abnormality, or dysfunction. ...
Phenylketonuria (PKU; ) is a human genetic disorder in which the body does not contain the enzyme phenylalanine hydroxylase, necessary to metabolize phenylalanine to tyrosine, and converts phenylalanine instead to phenylpyruvic acid. ...
Alkaptonuria also known as 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. ...
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. ...
Isovaleric acidemia is a rare genetic disorder in which the body is unable to process certain proteins properly. ...
Primary carnitine deficiency is a condition that prevents the body from using fats for energy, particularly during periods without food. ...
Ë Cystinuria is an inherited autosomal recessive disorder and is characterized by the formation of cystine stones in the kidneys, ureter, and bladder. ...
This article needs to be wikified. ...
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. ...
Homocystinuria, also known as Cystathionine beta synthase deficiency, is inherited disorder of the metabolism of the amino acid methionine. ...
Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. ...
Hyperammonemia is a metabolic disturbance characterised by an excess of ammonia in the blood. ...
Glutaric acidemia type 1 (or Glutaric Aciduria, GA1, or GAT1) is an inherited disorder in which the body is unable to process the amino acid lysine, hydroxylysine and tryptophan properly. ...
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. ...
Fructose intolerance is a hereditary condition due to a deficiency of liver enzymes that metabolise fructose. ...
Galactosemia is a rare genetic metabolic disorder which affects an individuals ability to properly digest the sugar galactose. ...
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. ...
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) 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 (pronounced ) is the most common of the lipid 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. ...
Fabrys disease (also known as Anderson-Fabry disease, Angiokeratoma corporis diffusum, and Ceramide trihexosidosis) is a rare, X-linked 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. ...
Wolman disease (also known as Wolman’s disease, Wolman’s syndrom, and acid lipase deficiency) is a rare severe lipid storage disease that is usually fatal by age 1. ...
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. ...
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. ...
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 processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ...
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, hypocalcaemia 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. ...
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 is an increased acidity (i. ...
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. ...
Alkalosis refers to a condition reducing hydrogen ion concentration of arterial blood plasma. ...
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. ...
Acatalasia (or Takaharas disease) is a peroxisomal disorder caused by a catalase deficiency. ...
It has been suggested that Gilbert syndrome be merged into this article or section. ...
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. ...
This article is about the disease. ...
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). ...
glycosaminoglycan Mucopolysaccharidosis - Hurler syndrome - Hunter syndrome - Sanfilippo syndrome - Morquio syndrome
glycoprotein I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
other Alpha 1-antitrypsin deficiency - Cystic fibrosis - Familial Mediterranean fever - Lesch-Nyhan syndrome The mucopolysaccharidoses are inborn errors of metabolism resulting from the deficiency of specific lysosomal enzymes needed in glycosaminoglycan catabolism. ...
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. ...
Hunters syndrome is a mucopolysaccharide disease caused by an enzyme deficiency of 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. ...
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. ...
Symptoms of ML III are often not noticed until the child is 3-5 years of age. ...
Aspartylglucosaminuria is a glycoprotein metabolism disorder caused by a lack of aspartylglucosaminidase (AGA). ...
Fucosidosis is an autosomal recessive disease in which fucosidase is not properly used in the cells to break fucose. ...
α-mannosidosis is a genetic disorder that causes progressive mental and physical deterioration. ...
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Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by reduced levels of alpha 1-antitrypsin in the blood. ...
Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ...
Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). ...
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