Genotype and clinical phenotype in four patients with glutathione synthetase deficiency

Alqarajeh, Firas; Abukhalaf, Sadi A.; Hmeidat, Bara'; Omorodion, Jacklyn; Dweikat, Imad

doi:10.1016/j.mgene.2020.100751

Cited by 2 publications

(1 citation statement)

References 14 publications

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“…In addition, patients with severe GSSD develop progressive nervous system dysfunctions, such as intellectual disability, seizures, and ataxia, and may also show recurrent bacterial infections ( 2 ), pathological electroretinograms, and retinal pigmentation ( 3 ). To date, no more than 90 GSSD cases have been reported worldwide ( 4 , 5 ), and approximately 25% of these patients die during the neonatal period owing to infection or electrolyte disturbance ( 6 ). Here, we present a case study of a neonate with severe GSSD carrying c.491G > A (p.?)…”

Section: Introductionmentioning

confidence: 99%

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

Wu¹,

Jiao²,

Xia³

et al. 2023

Front. Pediatr.

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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.

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Section: Introductionmentioning

confidence: 99%

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

Wu¹,

Jiao²,

Xia³

et al. 2023

Front. Pediatr.

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Glutathione Therapy in Diseases: Challenges and Potential Solutions for Therapeutic Advancement

Dehkordi,

Ghasemi

2024

CMM

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An endogenous antioxidant, reduced glutathione (GSH), is found at high concentrations in nearly all typical cells. GSH synthesis is a controlled process, and any disruption in the process of GSH synthesis could result in GSH depletion. Cellular oxidative damage results from GSH depletion. Various pathological conditions such as aging, cardiovascular disease (CVD), psychiatric disorders, neurological disorders, liver disorders, and diabetes mellitus are more affected by this stress. There are various reasons for GSH reduction, but replenishing it can help to improve this condition. However, there are challenges in this field. Low bioavailability and poor stability of GSH limit its delivery to tissues, mainly brain tissue. Today, new approaches are used for the optimal amount and efficiency of drugs and alternative substances such as GSH. The use of nano-materials and liposomes are effective methods for improving the treatment effects of GSH. The difficulties of GSH decrease and its connection to the most important associated disorders are reviewed for the first time in this essay. The other major concerns are the molecular mechanisms involved in them; the impact of treatment with replacement GSH; the signaling pathways impacted; and the issues with alternative therapies. The utilization of nano-materials and liposomes as potential new approaches to solving these issues is being considered.

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Genotype and clinical phenotype in four patients with glutathione synthetase deficiency

Cited by 2 publications

References 14 publications

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

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

Glutathione Therapy in Diseases: Challenges and Potential Solutions for Therapeutic Advancement

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