Galactosemia

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

Diagnosis

• 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

Treatment

• 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