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Article

Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia.

Pediatric research - 1 Aug 2018

Bech Laura F, Donneborg Mette Line, Lund Allan M, Ebbesen Finn

Abstract excerpt

BACKGROUND: Galactosemia has not been recognized as a cause of extreme neonatal hyperbilirubinemia, although growing evidence supports this association. METHODS: In a retrospective cohort study, we identified children with galactosemia due to GALT deficiency using the Danish Metabolic Laboratory Database. Among these, we identified children with extreme neonatal hyperbilirubinemia or symptoms of ABE. Extreme...

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PMID: 29892033
DOI: 10.1038/s41390-018-0066-0

Genes

GALT

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