Maple syrup urine disease (branched-chain ketoaciduria)

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

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