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

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.

SUBMITTER: Wu X

PROVIDER: S-EPMC10413980 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

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

Wu Xiaojiao X Jiao Jiancheng J Xia Yaofang Y Yan Xiaotong X Liu Zehao Z Cao Yanyan Y Ma Li L

Frontiers in pediatrics 20230727

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 manifes ...[more]

PMID: 37576147

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Project description:RationaleCongenital butyrylcholinesterase deficiency (BCHED) is a rare autosomal recessive genetic disorder caused by a pathogenic mutation in the BCHE gene. Patients with BCHED may experience prolonged apnea or even death after the application of drugs such as succinylcholine. We aimed to identify the genetic basis of disease in a patient presenting with butyrylcholinesterase deficiency in order to confirm the diagnosis, expand BCHE gene mutation spectrum, and elucidate potential genotype-phenotype associations to inform management.Patient concernsA 51-year-old woman presented with "vague pain in the upper and middle abdomen." Her serum cholinesterase level was 211 U/L (reference value 4000-13,000 U/L). Other laboratory findings were normal. Genetic analysis revealed compound heterozygous mutations in BCHE gene, which was considered pathogenic in this case.DiagnosesThe patient presented with low serum cholinesterase levels, which excluded common causes such as liver disease, drug toxicity, and chronic illness. Whole exon examination revealed compound heterozygous mutations in the BCHE gene; thus, the patient was diagnosed with congenital BCHED.InterventionsGastroscopy without succinylcholine or mivacurium chloride was recommended. The gastroscopy results were "gastric polyps," and gastroscopic "polypectomy" was performed. The patient was advised to avoid succinylcholine use.OutcomesThe patient's serum cholinesterase level was reviewed 3 months later, and the result was 215 U/L. Double heterozygous mutations are the cause of BChE deficiency of this woman in this study, including a novel mutation NM_000055.4: c.666_669del (p.Phe223Glufs*38). A review of the literature reveals considerable variation in the hotspot variants of the BCHE gene across different populations. The Chinese population displays a higher prevalence of the silent type, which is more sensitive to anesthetics such as succinylcholine.LessonsClinical manifestations of congenital BCHED were not significant. This study avoided a potential anesthetic accident, and the novel variant enriched the BCHE gene mutation spectrum.

Dataset Information

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

Publications

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

Similar Datasets

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