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Updated: Dec 25 2021


  • 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
  • epidemiology
    • Incidence is 1/62,000 births
      • carrier frequency is 1/125
    • Genetics
      • 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
  • 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
  • studies
    • 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)
  • Differential
    • Hereditary fructose intolerance
      • presents with vomiting, lethargy, and seizures when fructose is consumed
    • Galactokinase deficiency
      • less severe in symptoms, mostly commonly presents with infantile cataracts
  • 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.
      • use a soy-based formula
    • Although a lactose-free diet often prevents acute toxicity, long-term complications are common including
      • poor growth
      • speech and neurologic abnormalities
      • mental deficiency
    • If diagnosis is made early and milk products are strictly avoided the prognosis is for a normal life
    • Galactosemia (along with active substane use, active untreated tuberculosis, and ongoing chemotherapy) is a contraindication to breastfeeding.
    • 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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