Maple syrup urine disease

external

• Synonyms

  • MSUD
  • branched-chain ketoaciduria

• Effects

  • Sweet smelling urine
  • Nausea and vomiting
  • Dehydration
  • Seizure
  • Ketosis
  • Neonatal hypotonia

• Parents

  • Aminoacidopathies

• Description

  • "Disorder affecting branched-chain amino acids. Deficiency of branched-chain alpha-keto acid dehydrogenase complex (BCKDC). Build up of branched-chain amino acids (leucine
  • isoleucine
  • and valine) and their toxic by-products (ketoacids). Urine odour similar to that of maple syrup."