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Maple syrup urine disease

Alternative Names:
MSUD

Symptoms:
  • Family history of MSUD or unexplained infant death
  • Urine that smells like maple syrup
  • Feeding difficulties
  • Lethargy
  • Vomiting
  • Seizures
  • Coma
  • Avoiding food


Signs and tests:
  • Urine amino acids (elevated levels of the amino acids leucine, isoleucine, and valine)
  • Plasma amino acids (elevated levels of leucine, isoleucine, and valine)
  • Ketosis (elevated levels of ketone bodies in urine and plasma)
  • Acidosis (excess acid in blood)



Review Date: 4/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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