organic acidemia maple syrup urine disease Xref MGI. OMIM mapping confirmed by DO. [SN]. dihydrolipoamide dehydrogenase deficiency DOID:9269 SNOMEDCT_US_2020_03_01:27718001 OMIM:615135 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. OMIM:246900 OMIM:248600 NCI:C34806 GARD:3228 Ketoacidaemia MESH:D008375 branched chain ketoaciduria dihydrolipoamide dehydrogenase deficiency