DO_rare_slim NCIthesaurus has symptom organic acidemia maple syrup urine disease DOID:9269 MIM:246900 UMLS_CUI:C0024776 ORDO:511 ICD10CM:E71.0 disease_ontology 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. MIM:PS248600 Ketoacidaemia MIM:PS248600 NCI:C34806 SNOMEDCT_US_2025_09_01:27718001 GARD:3228 MESH:D008375 branched chain ketoaciduria dihydrolipoamide dehydrogenase deficiency vomiting