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

More general terms

• metabolic brain disease
• amino acid inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/248600
• OMIM: https://mirror.omim.org/entry/248610
• OMIM: https://mirror.omim.org/entry/248611