ArticleBrazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica2018
A case of severe glutathione synthetase deficiency with novel GSS mutations.
Article in Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 17 citations in OpenAlex.
- Clinical and Biochemical Analysis of Glutamate-Cysteine Ligase Deficiency Presented with Late-Onset Spinocerebellar Ataxia and Hemolytic Anemia.Molecular syndromology · 2024Article
- Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?Molecular syndromology · 2024Article
- Review
- Critical Roles of the Cysteine-Glutathione Axis in the Production of γ-Glutamyl Peptides in the Nervous System.International journal of molecular sciences · 2023Review
- Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up.The American journal of case reports · 2023Article
- Article
- Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation.Frontiers in pediatrics · 2023Article
- A rare case of Glutathione Synthetase Deficiency in a newborn with normal neurological development on follow-up.Medical journal, Armed Forces IndiaArticle
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5 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A case of a male newborn infant who had severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia is reported. A high level of 5-oxoproline was detected in his urine and a diagnosis of generalized GSSD was made. DNA sequence analysis revealed the infant to be compound heterozygous with two mutations, c.738dupG in exon 8 of GSS gene resulting in p.S247fs and a repetitive sequence in exon 3 of GSS gene. Treatment after diagnosis of GSSD included supplementation with antioxidants and oral sodium hydrogen bicarbonate. However, he maintained a variable degree of metabolic acidosis and succumbed shortly after his parents requested discontinuation of therapy because of dismal prognosis and medical futility when he was 18 days old.
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