maple syrup urine disease
An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.
MONDO:0000688
inborn organic aciduria
is_a
MONDO:0019242
inborn disorder of branched-chain amino acid metabolism
is_a
BCKD deficiency
exact
BCKDH deficiency
exact
Ketoacidaemia
exact
MSUD
exact
branched chain ketoaciduria
exact
branched-chain 2-ketoacid dehydrogenase deficiency
exact
branched-chain ketoaciduria
exact
maple syrup urine disease
exact
maple syrup urine disease, type 1A
narrow
maple syrup urine disease, type 1B
narrow
maple syrup urine disease, type 2
narrow
SPAC4A8.03c SPCC794.07 SPAC1002.09c