Article

Neonatal Classic Galactosemia in North India: A 7-Year Cohort Study of Presentation, Genetics, and Outcomes

2025-05-13

Abstract excerpt

<title>Abstract</title> <p> Purpose Classic galactosemia (CG) is an autosomal recessive inborn error of galactose metabolism, caused by a profound deficiency of galactose-1-phosphate uridyltransferase (GALT). Neonates affected by CG may appear healthy at birth but develop severe, life-threatening symptoms shortly after milk feeding begins. Common early signs include jaundice, hepatomegaly, feeding intolerance,...

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Literature Corpus work: 61e6b25b-c21b-525c-a159-deefab880c3c
DOI: 10.21203/rs.3.rs-6494139/v1

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