Clinical case of galactosemia type III

Abstract

Objective: description of a rare case of galactose metabolism disorder in a patient.
Methods: examination of a child with hypergalactosemia was conducted. Molecular genetic testing was performed using clinical exome sequencing and Sanger sequencing.
Results: molecular genetic testing was carried out on a 1 year and 9 months old patient with elevated galactose levels identified through newborn screening. Two variants of the nucleotide sequence of the GALE gene were found in a compound heterozygous state (p.Thr271Met, p.Tyr241His). Medical genetic counseling was provided to the family, Medical genetic counseling was conducted for the family, and the carrier status of the parents was clarified.
Conclusion: establishing an accurate diagnosis will allow timely determination of patient management strategies.