an autosomal recessive metabolic disorder.
Etiology:
inability of the body to properly break down branched-chain amino acids (leucine, isoleucine and valine)
due to a deficiency of the branched-chain alpha-keto acid dehydrogenase complex
resulting in accumulation of these amino acids and metabolites to toxic levels within the body
Manifestations:
- presence of sweet-smelling urine
- poor feeding
- vomiting
- dehydration
- lethargy
- hypotonuria
- seizures
- ketoacidosis
- opisthotonus
- pancreatitis
- neurological decline
Treatment:
- monitoring of blood chemistry levels
- diet low in the amino acids valine, leucine and isoleucine
