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Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia

H C Woo1, C Phornphutkul, A R Laptook

  • 1Department of Pediatrics, Women and Infants Hospital of Rhode Island, The Warren Alpert Medical School of Brown University, Providence, RI 02905, USA. dwoo@wihri.org

Journal of Perinatology : Official Journal of the California Perinatal Association
|March 31, 2010
PubMed

Insights

Classic galactosemia, a genetic disorder, typically causes jaundice with a direct bilirubin fraction. This case highlights an infant with severe indirect hyperbilirubinemia, requiring exchange transfusion shortly after milk ingestion.

Area of Science:

  • Biochemistry
  • Genetics
  • Neonatal Medicine

Background:

  • Classic galactosemia is an inherited metabolic disorder caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene.
  • It typically presents in infants with jaundice following the introduction of lactose-containing formulas.
  • Jaundice in galactosemia is often characterized by a predominant direct hyperbilirubinemia.

Observation:

  • This report details an infant diagnosed with galactosemia.
  • The infant presented with severe jaundice, primarily characterized by indirect hyperbilirubinemia.
  • The clinical presentation met criteria for an exchange transfusion within 48 hours of milk ingestion.

Findings:

  • The infant's jaundice was predominantly indirect hyperbilirubinemia, contrary to the typical presentation of direct hyperbilirubinemia in galactosemia.
  • This atypical presentation underscores the variability in clinical manifestations of classic galactosemia.

Implications:

  • This case broadens the understanding of galactosemia's clinical spectrum, particularly regarding neonatal jaundice.
  • It emphasizes the importance of considering galactosemia in infants with severe indirect hyperbilirubinemia, even if atypical.
  • Early recognition and intervention are crucial for managing severe hyperbilirubinemia in galactosemia to prevent long-term complications.

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