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Newborn Screening ACT Sheet

[Absent/Reduced Galactose-1-Phosphate Uridyltransferase (GALT)]
Classical Galactosemia

Differential Diagnosis: : Galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency); GALT heterozygotes; GALT variants; artifactual reductions due to enzyme inactivation by high temperature and/or humidity.

Condition Description: In galactosemia, GALT deficiency results in accumulation of galactose-1-phosphate (Gal- 1-P) and galactose, causing multi-organ disease.


  • Contact family to inform them of the newborn screening result, ascertain clinical status, arrange immediate clinical evaluation, stop breast or cow’s milk and initiate non-lactose feeding (powder-based soy formula).
  • Consult with metabolic specialist; refer if considered appropriate.
  • Evaluate the infant (jaundice, poor feeding, vomiting, lethargy, bulging fontanel, and bleeding) and arrange diagnostic testing as directed by metabolic specialist.
  • Emergency treatment as recommended by metabolic specialist. If baby is sick, stop cow’s milk and initiate non-lactose feedings.
  • Educate family about importance of diet change.
  • Report findings to newborn screening program.

Diagnostic Evaluation:

Quantification of erythrocyte galactose-1-phosphate (Gal-1-P) and GALT. Classical galactosemia shows <1 % GALT activity and markedly increased Gal-1-P. Transfusions in infant can invalidate the results of erythrocyte enzyme assays. Enzyme variants may be distinguished by GALT electrophoresis or mutation analysis.

Clinical Considerations:

Classical galactosemia presents in the first few days of life and may be fatal without treatment. Signs include poor feeding, vomiting, jaundice and, sometimes, lethargy and/or bleeding. Neonatal E. coli sepsis can occur and is often FATAL. Treatment is withdrawal of milk and, if symptomatic, emergency measures.

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