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Problems with the new born screen for galactosaemia

John I Malone1, Alicia Diaz-Thomas, Kathleen Swan

  • 1Department of Pediatrics, University of South Florida, Tampa, Florida, USA. jmalone@hsc.usf.edu

BMJ Case Reports
|June 14, 2012
PubMed

Insights

Newborn screening for classical galactosaemia is crucial for early detection. Prompt dietary changes, removing lactose and galactose, significantly improve outcomes for affected infants.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Newborn screening aims to detect serious genetic disorders in asymptomatic infants before irreversible damage occurs.
  • Classical galactosaemia is a severe inherited metabolic disorder that can lead to liver failure and other complications if not identified early.

Observation:

  • A family experienced two children with classical galactosaemia, with the first child missed by newborn screening, leading to liver failure and transplant.
  • The second child presented with similar symptoms but was identified by newborn screening due to reduced galactose-1-phosphate uridyl transferase activity.

Findings:

  • Early detection through newborn screening and immediate dietary intervention (lactose and galactose restriction) led to significant clinical improvement in the second child.
  • A critical factor in screening accuracy involves ensuring the patient has only native red blood cells when measuring enzyme activity for inborn genetic defects.

Implications:

  • This case highlights the importance of robust newborn screening programs for identifying classical galactosaemia.
  • Physicians must be aware of potential screening test failures, particularly concerning red blood cell integrity, to prevent diagnostic errors and ensure timely treatment.

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