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Illustrated Health Encyclopedia
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Ency. home > Disease > M > Maple syrup urine disease

Maple syrup urine disease   

Overview | Symptoms | Treatment | Prevention

Alternative names:

MSUD

Symptoms

  • Family history of MSUD or unexplained infant death
  • Urine which smells like maple syrup
  • Feeding difficulties
  • Lethargy
  • Vomiting
  • Seizures
  • Coma
  • Avoiding food/feeding intolerance

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 leves of ketone bodies in urine and plasma
  • Acidosis = excess acid in blood

Ency. home > Disease > M > Maple syrup urine disease

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