Keyword: Screening

ABSTRACT: Galactosemia is a rare metabolic disease, and late diagnosis can lead to severe liver injury. We present a clinical case of galactosemia type I that manifested during the late neonatal period with vomiting, cholestatic liver injury, coagulopathy with hemorrhagic syndrome, and poor weight gain. Differential diagnoses included necrotizing enterocolitis and intestinal obstruction. The residual activity of the GALT enzyme corresponded to the biochemical variant but did not match the severity of the clinical presentation. On a lactose-free formula, the child's condition improved. Genetic testing identified two pathogenic heterozygous mutations in exons 3 and 6 of the GALT gene. Subsequent observation revealed delayed motor development by the end of the first year of life.