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maple syrup urine disease; branched-chain ketoaciduria
Pathology:
- block in oxidative decarboxylation
Genetics:
- associated with defects in DLD
- associated with defects BCKDHA (type 1A) & BCKDHB (type 1B)
Clinical manifestations:
- mental & physical retardation
- feeding problems
- maple syrup odor to the urine
Laboratory:
- branched-chain ketoaciduria
- BCKDHB gene mutation
Related
dihydrolipamide acyltransferase E2 (keto acid dehydrogenase E2, BCATE2 E2 subunit, DBT, BCKAD)
General
amino acid inborn error of metabolism
metabolic brain disease
Properties
DEFICIENCY: dihydrolipamide acyltransferase E2
Database Correlations
OMIM correlations
MORBIDMAP correlations