Galactosemia

Galactosemia
  • Facts:
    Found in newborns
    Galactose-1-phosphate uridyl transferase deficiency

    Leads to the accumulation of galactose-1-phosphate in the liver, brain, and kidneys
  • History / PE:
    Failure to thrive
    Bilateral cateracts
    Jaundice
    Hypoglycemia
  • Treatment:
    Elimination of galactose from diet
  • Complications:
    Fanconi's syndrome
    Cirrhosis
    Mental retardation



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August 7th 2010