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Up to: Inborn organic aciduria · Inborn disorder of branched-chain amino acid metabolism

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.

2 trials tagged with this condition →

Maple syrup urine disease type 1A 1 trial
Maple syrup urine disease type 1B 1 trial
Maple syrup urine disease type 2 1 trial
Pyruvate dehydrogenase E3 deficiency 1 trial
Classic maple syrup urine disease 0 trials
Intermediate maple syrup urine disease 0 trials
Intermittent maple syrup urine disease 0 trials
Maple syrup urine disease, mild variant 0 trials
Thiamine-responsive maple syrup urine disease 0 trials