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Disease Ontology Browser
maple syrup urine disease (DOID:9269)
Synonyms: branched chain ketoaciduria; dihydrolipoamide dehydrogenase deficiency; Ketoacidaemia
Alt IDs: OMIM:246900, OMIM:248600, OMIM:615135, ICD10CM:E71.0, MESH:D008375, NCI:C34806, ORDO:511, UMLS_CUI:C0024776
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.

Disease References using Mouse Models (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/11/2017
MGI 6.10
The Jackson Laboratory