Maple Syrup Urine Disease

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OMIM 57 248600 Disease Ontology 12 DOID:9269 ICD10 33 E71.0 MeSH 44 D008375 NCIt 50 C34806 SNOMED-CT 68 27718001 Orphanet 59 ORPHA511 ORPHA268145 ORPHA268184 ORPHA268173 more

ICD10 via Orphanet 34 E71.0 MESH via Orphanet 45 D008375 UMLS via Orphanet 74 C0024776 C0268576 C0268568 C0751285 C0268569 more MedGen 42 C0024776 C0268568 C0268569 C0751285 C1621920 C1855369 CN068546 C1855370 C1855371 CN069615 more KEGG 37 H00172 SNOMED-CT via HPO 69 258211005 7011001 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 85102008 398151007 398152000 214264003 371632003 224958001 41581000 56731001 75694006 237630007 271327008 302866003 213281004 2538008 249497008 300359004 422400008 409623005 2032001 190882007 91273001 more UMLS 73 C0024776 C0268193 C3492932 C1855371 C0235430 C0268568 C0268569 C1621920 C1855369 C2930990 more

UniProtKB/Swiss-Prot : ⁷⁵ Maple syrup urine disease: A metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched- chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated.

MalaCards based summary : Maple Syrup Urine Disease, also known as bckd deficiency, is related to intermediate maple syrup urine disease and phenylketonuria, and has symptoms including ataxia, lethargy and seizures. An important gene associated with Maple Syrup Urine Disease is BCKDHB (Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Metabolism. The drug 4-phenylbutyric acid has been mentioned in the context of this disorder. Affiliated tissues include brain, liver and testes, and related phenotypes are intellectual disability and seizures

OMIM : ⁵⁷ The major clinical features of maple syrup urine disease are mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine, resulting from a block in oxidative decarboxylation. There are 5 clinical subtypes of MSUD: the 'classic' neonatal severe form, an 'intermediate' form, an 'intermittent' form, a 'thiamine-responsive' form, and an 'E3-deficient with lactic acidosis' form (246900). All of these subtypes can be caused by mutations in any of the 4 genes mentioned above, except for the E3-deficient form, which is caused only by mutation in the E3 gene (Chuang and Shih, 2001). (248600)

NIH Rare Diseases : ⁵³ Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and developmental delay. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. Maple syrup urine disease can be life-threatening if untreated.

Genetics Home Reference : ²⁵ Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death.

Disease Ontology : ¹² An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.

Wikipedia : ⁷⁶ Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal... more...

GeneReviews: NBK1319

Clinical features from OMIM:

248600

Search NIH Clinical Center for Maple Syrup Urine Disease

Search GEO for disease gene expression data for Maple Syrup Urine Disease.