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Transient neonatal galactosaemia.

C J Taylor1, J M Rattenbury, J C Allen

  • 1Department of Paediatrics, Children's Hospital, Sheffield.

Archives of Disease in Childhood
|November 1, 1988
PubMed
Summary
This summary is machine-generated.

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A 4-week-old infant with failure to thrive showed high galactose levels. Dietary lactose exclusion improved the infant, indicating transient galactose intolerance.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Metabolic Disorders

Background:

  • Galactosemia is a genetic disorder affecting galactose metabolism.
  • Classic galactosemia involves deficient galactose-1-phosphate uridyltransferase (GALT) activity.
  • Newborn screening typically identifies affected infants early.

Observation:

  • A 4-week-old infant presented with failure to thrive and urinary galactose.
  • Elevated plasma galactose levels were observed (4.48 mmol/l).
  • Red blood cell galactose transferase and epimerase activities were within normal limits.

Findings:

  • The infant showed clinical improvement upon exclusion of dietary lactose.
  • Biochemical analysis revealed normal galactose metabolism by 7 months of age.

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  • This suggests a transient, non-GALT-dependent galactose intolerance.

    • Implications:

    • This case highlights a rare form of galactose intolerance not explained by classic enzyme deficiencies.
    • Early dietary intervention can lead to favorable outcomes in such cases.
    • Further research into the mechanisms of transient galactose intolerance is warranted.