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DOID:9269 - maple syrup urine disease
Disease Ontology 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.
Synonyms: branched chain ketoaciduria, dihydrolipoamide dehydrogenase deficiency, Ketoacidaemia
Xenbase Genes
:
bckdhb,
ppm1k,
dbt,
dld,
bckdha
| MONDO:0009563 - maple syrup urine disease |
| MIM:246900 - DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD |
| MIM:248600 - MAPLE SYRUP URINE DISEASE, TYPE IA; MSUD1A |
| MIM:615135 - MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
organic acidemia (is_a)