maple syrup urine disease

Summary

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

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

MONDO:0009563 - maple syrup urine disease

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: bckdhb, ppm1k, dbt, dld, bckdha

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Parent(s): organic acidemia (is_a)