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Key Features

  • Severely deficient neonates present with vomiting, jaundice, and hepatomegaly on initiation of lactose-containing feedings

  • Renal Fanconi syndrome, cataracts of the ocular lens, hepatic cirrhosis, and sepsis occur in untreated children

  • Delayed, apraxic speech and ovarian failure occur frequently even with treatment

  • Developmental delay, tremor, and ataxia occur less frequently

  • Classic galactosemia is caused by almost total deficiency of galactose-1-phosphate uridyltransferase

  • Disorder is autosomal recessive with an incidence of approximately 1:40,000 live births

Clinical Findings

  • Onset of the severe disease is marked in the neonate by

    • Vomiting

    • Jaundice (both direct and indirect)

    • Hepatomegaly

    • Rapid onset of liver insufficiency after initiation of milk feeding

  • Hepatic cirrhosis is progressive

  • Cataracts usually develop within 2 months in untreated cases but usually reverse with treatment

  • Even when dietary restriction is instituted early, patients with galactosemia are at increased risk for speech and language deficits and ovarian failure

  • Progressive mental retardation, tremor, and ataxia develop in some patients


  • In infants receiving foods containing galactose, laboratory findings include liver dysfunction, particularly PT prolongation, together with proteinuria and aminoaciduria

  • Galactose-1-phosphate is elevated in red blood cells

  • When the diagnosis is suspected, galactose-1-phosphate uridyltransferase should be assayed in erythrocytes


  • A galactose-free diet should be instituted as soon as the diagnosis is made

  • Compliance with the diet must be monitored by following galactose-1-phosphate levels in red blood cells

  • Left untreated, death frequently occurs within a month, often from Escherichia coli sepsis

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