A novel missense mutation (c.516A>T; p.Glu172Asp) in the GALT gene as a cause of classic galactosemia: A case report

Abstract

Classic galactosemia is an autosomal recessive disorder of galactose metabolism, which can result in life-threatening complications due to mutations within the GALT gene. Definite diagnosis of classic galactosemia is established by the detection of pathogenic mutations in the GALT gene. Herein we are reporting a novel missense mutation (c.516A>T; p.Glu172Asp) in exon 6 of the GALT gene in the homozygous state in a 2-year-old female infant. Screening-test for galactosemia was abnormal in this patient. We evaluated the GALT protein structure using molecular docking analysis. Accordingly, we identified that the Glu172 is one of the galactose 1-phosphate binding sites, and a substitution mutation in this position can disrupt the active site of GALT protein.