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Galactosemia

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Topic updated on 06/18/17 4:34pm

Snapshot
  • A two-week-old infant is brought to the emergency department because of diarrhea, poor feeding, abdominal distention, and vomiting for the past 3 days. Physical exam reveals a temperature of 39 deg Celsius, cataracts, hepatomegaly, and jaundice. The mother says the only change has been that she recently began giving him milk products.
Introduction
  • Autosomal recessive errors of galactose metabolism
  • Absence in galactose-1-phosphate uridyltransferase leads to
    • genetic defects in the stepwise conversion of galactose to glucose
    • accumulation of galactose 1-phosphate in liver, kidney, and brain
  • incidence is 1/62,000 births
    • carrier frequency is 1/125
Presentation
  • An infant with classic galactosemia appears
    • normal at birth
    • upon being fed milk, will develop
      • jaundice
      • vomiting
      • lethargy
      • irritability
      • convulsions
  • Continued feeding of milk products to the infant leads to
    • cataract formation
    • hepatosplenomegaly
    • mental retardation
Evaluation
  • Widespread screening in newborns often leads to early diagnosis. Screen for
    • decreased RBC concentrations of galactose 1-phosphate uridyltransferase
    • increased concentrations of galactose 1-phosphate (in serum and urine)
Treatment
  • Treatment involves eliminating all sources of galactose in the diet 
    • most notably lactose which is present in
      • all dairy products
      • sweetener in many foods.
  • Although a lactose-free diet often prevents acute toxicity, long-term complications are common including
    • poor growth
    • speech and neurologic abnormalities
    • mental deficiency
Prognosis, Prevention, and Complications
  • If diagnosis is made early and milk products are strictly avoided the prognosis is for a normal life
  • Without optimal treatment, the child remains physically stunted and mentally retarded
    • many also have cataracts and rickets
    • most female patients have ovarian failure


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