Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation

Xiaojiao Wu; Jiancheng Jiao; Yaofang Xia; Xiaotong Yan; Zehao Liu; Yanyan Cao; Li Ma

doi:10.3389/fped.2023.1212405

Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation

Front Pediatr. 2023 Jul 27:11:1212405. doi: 10.3389/fped.2023.1212405. eCollection 2023.

Authors

Xiaojiao Wu^{1

2}, Jiancheng Jiao^{1

2}, Yaofang Xia^{1

2}, Xiaotong Yan^{2

3}, Zehao Liu^{2

3}, Yanyan Cao^{2

3}, Li Ma^{1

2}

Affiliations

¹ Department of Neonatology, Children's Hospital of Hebei Province, Shijiazhuang, China.
² Pediatric Clinical Research Centre of Hebei Province, Children's Hospital of Hebei Province, Shijiazhuang, China.
³ Institute of Pediatric Research, Children's Hospital of Hebei Province, Shijiazhuang, China.

Abstract

Glutathione synthetase deficiency (GSSD) is an autosomal-recessive metabolic disorder caused by glutathione synthetase (GSS) gene mutations. No more than 90 cases of GSSD have been reported worldwide; thus, the spectrum of GSS mutations and the genotype-phenotype association remain unclear. Here, we present a severely affected infant carrying a compound heterozygous GSS variation, c.491G > A, and a novel variant of c.1343_1348delTACTTC. We also summarize the clinical manifestations, treatment protocol, prognosis, and genetic characteristics of previously reported GSSD cases in China. In this case study, our patient presented with tachypnea, jaundice, intractable metabolic acidosis, and hemolytic anemia. Urinary-organic acid analysis revealed elevated 5-oxoproline levels. Further, this patient showed improved outcomes owing to early diagnosis and the timely administration of vitamins C and E. Therefore, our study indicates that in clinical cases of unexplained hemolytic anemia and metabolic acidosis, GSSD should be considered. Additionally, genetic testing and antioxidant application might help identify GSSD and improve the prognosis.

Keywords: 5-oxoprolinuria; case report; glutathione synthetase deficiency; glutathione synthetase gene variation; inherited metabolic disease; newborn.

Publication types

Case Reports

Grants and funding

This study was supported by the Medical Science Research Program of Hebei Province (20220709), the Government Funded Clinical Medicine Excellent Talent Training Project (ZF2022034), and the Hebei Natural Science Foundation (H2022316005).