A case of glutathione synthetase deficiency due to compound heterozygous variant of glutathione synthase gene

VernacularTitle:谷胱甘肽合成酶基因复合杂合变异致谷胱甘肽合成酶缺乏症1例
Author: Ang MA ¹ ; Daoqi MEI ; Yuan WANG ; Yaodong ZHANG ; Yu GU ; Bangli XU
Author Information

1. 郑州大学附属儿童医院　河南省儿童医院郑州儿童医院儿内科，郑州　450018
Keywords: GSS gene; Glutathione synthetase deficiency; 5-Oxoprolinuria; Metabolic acidosis
From: Chinese Journal of Neurology 2023;56(12):1419-1423
CountryChina
Language:Chinese
Abstract: The clinical data and gene variant characteristics of a patient with glutathione synthetase (GSS) deficiency were summarized. The child was born 15 min prematurely as a male infant with postnatal respiratory distress, metabolic acidosis, severe anemia, hemolysis, hyperbilirubinemia, and motor developmental backwardness. Blood and urine genetic metabolic screening showed a blood glutamate value of 1 343.1 μmol/L and a urine 5-oxoproline value of 1 873.7 nmol/mg creatinine. Cranial magnetic resonance imaging showed nonspecific subarachnoid widening. Whole-exon gene sequencing of the family line suggested that the GSS gene of the preexisting patient originated from paternal and maternal variants, respectively: c.632_633del (p.Gln211Argfs *8), and c.491G>A (p.Arg164Gln). Complex heterozygous variants of the GSS gene were the genetic etiology of the present case.