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Review
. 2024 May 22;24(1):352.
doi: 10.1186/s12887-024-04769-0.

A case report of classic galactosemia with a GALT gene variant and a literature review

Yong-Cai Wang  1   2 , Lian-Cheng Lan  1 , Xia Yang  1 , Juan Xiao  1 , Hai-Xin Liu  1 , Qing-Wen Shan  3
Affiliations
Review

A case report of classic galactosemia with a GALT gene variant and a literature review

Yong-Cai Wang et al. BMC Pediatr. .

Abstract

Background: Galactosemia is an autosomal recessive disorder resulting from an enzyme defect in the galactose metabolic pathway. The most severe manifestation of classic galactosemia is caused by galactose-1-phosphate uridylyltransferase (GALT) deficiency, and this condition can be fatal during infancy if left untreated. It also may result in long-term complications in affected individuals.

Case presentation: This report describes a patient whose initial clinical symptoms were jaundice and liver dysfunction. The patient's liver and coagulation functions did not improve after multiple admissions and treatment with antibiotics, hepatoprotective and choleretic agents and blood transfusion. Genetic analysis revealed the presence of two variants in the GALT gene in the compound heterozygous state: c.377 + 2dup and c.368G > C (p.Arg123Pro). Currently, the variant locus (c.377 + 2dup) in the GALT gene has not been reported in the Human Gene Mutation Database (HGMD), while c.368G > C (p.Arg123Pro) has not been reported in the Genome Aggregation Database (GnomAD) nor the HGMD in East Asian population. We postulated that the two variants may contribute to the development of classical galactosemia.

Conclusions: Applications of whole-exome sequencing to detect the two variants can improve the detection and early diagnosis of classical galactosemia and, more specifically, may identify individuals who are compound heterozygous with variants in the GALT gene. Variants in the GALT gene have a potential therapeutic significance for classical galactosemia.

Keywords: GALT gene; Exome sequencing; Galactosemia; Literature review; Liver failure.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Represents the standard Leloir pathway
Fig. 2
Fig. 2
Sanger sequencing confirmed that the patient was a compound heterozygote for the c.377 + 2dup variant of the GALT gene located at chromosome position chr9:34647704. The father was also a compound heterozygote with the same variant, whereas the mother and elder brothers were wild types
Fig. 3
Fig. 3
Sanger sequencing confirmed that the patient was heterozygous for the c.368G > C variant in GALT (chromosome position: chr9:34647693), with the father being wild type and the mother and eldest brother being heterozygous for the same variant, while the second brother is wild type
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