NationMaster - Encyclopedia: Maple syrup urine disease

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of amino acid metabolism. It is also called branched chain ketoaciduria. Image File history File links Download high resolution version (1396x1476, 19 KB) Licensing File links The following pages link to this file: Amino acid Leucine User:Benjah-bmm27/Gallery ... Leucine is one of the 20 most common amino acids and coded for by DNA. It is isomeric with isoleucine. ... Isoleucine is one of the 20 natural amino acids, and is coded for in DNA. Its chemical composition is identical to that of leucine, but the arrangement of its atoms is slightly different, resulting in different properties. ... Valine is one of the 20 natural amino acids, and is coded for in DNA. Nutritionally, valine is also an essential amino acid. ... 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 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 (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. ... MedlinePlus (medlineplus. ... 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. ... A metabolic disorder is a medical disorder which affects the production of energy within individual human (or animal) cells. ... Protein metabolism denotes the various biochemical processes responsible for the synthesis of proteins and amino acids, and the breakdown of proteins (catabolism). ...

Causes

This amino acid acidopathy is due to a deficiency of the metabolic enzyme branched chain α-keto acid dehydrogenase (BCKDH) leading to a buildup of branched-chain amino acids (leucine, isoleucine, and valine) in the blood and urine. The branched-chain alpha-keto acid dehydrogenase complex is a combination of enzymes responsible for the degradation of the branched chain amino acids (valine, leucine, and isoleucine). ... In chemistry, an amino acid is any molecule that contains both amino and carboxylic acid functional groups. ... Leucine is one of the 20 most common amino acids and coded for by DNA. It is isomeric with isoleucine. ... Isoleucine is one of the 20 natural amino acids, and is coded for in DNA. Its chemical composition is identical to that of leucine, but the arrangement of its atoms is slightly different, resulting in different properties. ... Valine is one of the 20 natural amino acids, and is coded for in DNA. Nutritionally, valine is also an essential amino acid. ...

Presentation

Characterized by an infant with sweet-smelling urine with an odor similar to that of maple syrup, infants with this disease seem healthy at birth but if left untreated suffer severe brain damage and eventually die. Because of a genetic bottleneck effect, MSUD has a much higher prevalence in children of Amish and Mennonite descent. This article does not cite its references or sources. ... Brain damage or brain injury is the destruction or degeneration of brain cells. ... A population bottleneck (or genetic bottleneck) is an evolutionary event in which a significant percentage of a population or species is killed or otherwise prevented from reproducing, and the population is reduced by 50% or more, often by several orders of magnitude. ... The Amish (IPA: ) are an Anabaptist Christian denomination in the United States and Canada (Ontario and Manitoba) that are known for their plain dress and limited use of modern conveniences such as automobiles and electricity. ... The Mennonites are a group of Christian Anabaptist denominations named after and influenced by the teachings and tradition of Menno Simons (1496-1561). ...

From early infancy, the condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and mental health issues. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. Vomiting (also throwing up or emesis) is the forceful expulsion of the contents of ones stomach through the mouth and sometimes the nose. ... Fatigue is a feeling of excessive tiredness or lethargy, with a desire to rest, perhaps to sleep. ... This article is about the medical condition. ... A piece of caramel confectionery. ...

Classification

Maple syrup urine disease can be classified by its pattern of signs and symptoms or by its genetic cause. The most common and most severe form of the disease is the classic type, which appears soon after birth. Variant forms of the disorder appear later in infancy or childhood and are typically less severe, but still involve mental and physical retardation if not treated. Mental retardation is a term for a pattern of persistently slow learning of basic motor and language skills (milestones) during childhood, and a significantly below-normal global intellectual capacity as an adult. ...

Treatment

Treatment of the MSUD, like diabetes, requires careful monitoring of blood chemistry and involves both special diet and frequent testing. A diet with minimal levels of the amino acids leucine, isoleucine, and valine must be maintained in order to prevent neurological damage. Usually, patients, or parents of patients are assisted by a physician or dietician. This diet must be adhered to strictly and permanently. However, with proper treatment those afflicted are able to live healthy, normal lives and not suffer the severe neurological damage that characterizes the untreated disease.

Genetics

Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide. Wikipedia does not yet have an article with this exact name. ... Wikipedia does not yet have an article with this exact name. ... It has been suggested that this article or section be merged into Dominance relationship. ...

These four genes produce proteins that work together as the branched-chain alpha-keto acid dehydrogenase complex. The complex is essential for breaking down the amino acids leucine, isoleucine, and valine, which are present in many kinds of food (particularly protein-rich foods such as milk, meat, and eggs). Mutations in any of these genes reduce or eliminate the function of the enzyme complex, preventing the normal breakdown of leucine, isoleucine, and valine. As a result, these amino acids and their by-products build up in the body. Because high levels of these substances are toxic to the brain and other organs, this accumulation leads to the serious medical problems associated with maple syrup urine disease. However recent breakthroughs have yielded treatments through liver transplants and gene therapy is on the rise. 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. ... The Branched-chain alpha-keto acid dehydrogenase complex is a combination of enzymes responsible for the degradation of the branched chain amino acids. ... Leucine is one of the 20 most common amino acids and coded for by DNA. It is isomeric with isoleucine. ... Isoleucine is one of the 20 natural amino acids, and is coded for in DNA. Its chemical composition is identical to that of leucine, but the arrangement of its atoms is slightly different, resulting in different properties. ... Valine is one of the 20 natural amino acids, and is coded for in DNA. Nutritionally, valine is also an essential amino acid. ... A representation of the 3D structure of myoglobin, showing coloured alpha helices. ... Leucine is one of the 20 most common amino acids and coded for by DNA. It is isomeric with isoleucine. ... Isoleucine is one of the 20 natural amino acids, and is coded for in DNA. Its chemical composition is identical to that of leucine, but the arrangement of its atoms is slightly different, resulting in different properties. ... Valine is one of the 20 natural amino acids, and is coded for in DNA. Nutritionally, valine is also an essential amino acid. ... In animals the brain, or encephalon (Greek for in the head), is the control center of the central nervous system, responsible for thought. ...

In fiction

The antagonist in Patricia Cornwell's novel Postmortem suffers from this disease. An antagonist is a character or group of characters, or, sometimes an institution of a happening who represents the opposition against which the hero(es) or protagonist(s) must contend. ... Patricia Cornwell frequently writes about her hometown, Richmond, Virginia. ... A novel (from French nouvelle Italian novella, new) is an extended, generally fictional narrative, typically in prose. ... Post Mortem Post Mortem is the first book of the Dr. Kay Scarpetta series of books by author Patricia Cornwell. ...

See also

Inborn errors of metabolism are a large group of rare but often serious metabolic disorders that generally arise from deficiency or malfunction of enzymes that regulate conversion of various substances into others. ...

References

The U.S. National Library of Medicine (NLM), operated by the U.S. federal government, is the worlds largest medical research library. ... Charles Robert Scriver (born November 7, 1930) is a Canadian physician and genetics researcher. ...

External links

Categories: Genetic disorders | Inborn errors 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. ... Minerals are natural compounds formed through geological processes. ... 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. ... An electrolyte is a substance containing free ions which 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 is an increased acidity (i. ... 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. ... 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. ... Core porphyrin structure 3D representation A porphyrin is a heterocyclic macrocycle made from 4 pyrrole subunits linked on opposite sides (Î± position) through 4 methine bridges (=CH-). The macrocycle, therefore, is more aromatic than the related corrins, chlorins (2,3-dihydroporphyrin) and bacteriochlorins (2,3,12,13-tetrahydroporphyrin). ... Bilirubin is a yellow breakdown product of heme catabolism. ... 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. ... 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). ... Chondroitin sulfate Hyaluronan Glycosaminoglycans (GAGs) or mucopolysaccharides are long unbranched polysaccharides consisting of a repeating disaccharide unit. ... 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. ... A glycoprotein is a macromolecule composed of a protein and a carbohydrate (an oligosaccharide). ... 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. ... 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). ... Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). ...

Contents

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