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| Term | maple syrup urine disease | ID (Ontology) | DOID:9269 (Human Disease) |
| Definition | 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. | ||
| Also Known As | "branched chain ketoaciduria" ; "Ketoacidaemia" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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amino acid metabolic disorder |__organic acidemia |__maple syrup urine disease 9 rec. |
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| Is a | organic acidemia | ||
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GARD:3228 ICD10CM:E71.0 MESH:D008375 MIM:246900 MIM:248600 MIM:615135 NCI:C34806 ORDO:511 SNOMEDCT_US_2023_03_01:27718001 UMLS_CUI:C0024776 |
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