A maple syrup urine disease caused by mutations in BCKDHA.
Comprehensive, easy-to-understand information about this condition
Checking for content...
pyruvate dehydrogenase E3 deficiency
MONDO:0009529
maple syrup urine disease, mild variant
MONDO:0014057
classic maple syrup urine disease
MONDO:0017051
intermediate maple syrup urine disease
MONDO:0017052
intermittent maple syrup urine disease
MONDO:0017053
thiamine-responsive maple syrup urine disease
MONDO:0017054