A clinical case of galactosemia type I in a child with a compound heterozygous mutation in the gene: C.267CG (p. Tyr89Term), C.563A (p.Gln188Arg)

Galactosemia is an orphan metabolic disease, the late diagnosis of which can lead to severe liver damage. A clinical case of galactosemia type I is presented. The disease manifested itself in the late neonatal period with vomiting, cholestatic liver damage, coagulopathy with hemorrhagic syndrome, and weight loss. A differential diagnosis was performed with necrotic enterocolitis and intestinal obstruction. The residual activity of the GALT enzyme corresponded to the biochemical variant, and did not correlate with the severe clinical picture. Against the background of lactose-free formula feeding, the child's condition improved. Genetic examination revealed two pathological mutations in the heterozygous state in exons 3 and 6 of the GALT gene. Catamnestic observation showed the formation of a delay in static-motor development in the child by the end of the first year of life.