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Summary Literature (0)
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: Ketoacidaemia, branched chain ketoaciduria, dihydrolipoamide dehydrogenase deficiency

In OMIM:
OMIM:246900 - DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD
OMIM:248600 - MAPLE SYRUP URINE DISEASE; MSUD
OMIM:615135 - MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV

In Mondo Disease Ontology:
MONDO:0009563 - maple syrup urine disease

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : bckdhb, ppm1k, dbt, dld, bckdha

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): organic acidemia (is_a)