MAPLE SYRUP URINE DISEASE

Disease

MAPLE SYRUP URINE DISEASE

Description

  • It is a rare inherited metabolic disorder
  • The urine of people with this condition can smell like maple syrup

Symptoms

  • Coma
  • Feeding difficulties
  • Lethargy
  • Seizures
  • Urine that smells like maple syrup
  • Vomiting
  • Hypertonia

Diagnostic Tests

  • Plasma amino acid test
  • Urine organic acid test
  • Genetic test
  • Amniocentesis
  • Chorionic villus sampling (CVS)

Treatment

  • Protein free diet
  • Intravenous (IV) administration of amino acids that don’t contain BCAAs

Complication

  • Neurological damage
  • Coma
  • Death
  • Mental disability
  • Fatigue

Lifestyle management

  • Genetic counseling
  • Restricted diet
  • Regular medical checkups