ArticleHuman genetics2005
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.
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Who cites it
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 71 citations in OpenAlex.
- Clinical feature and genetic analysis ofFrontiers in genetics · 2023Pooled it
- Drug treatment of inborn errors of metabolism: a systematic review.Archives of disease in childhood · 2013Pooled it
- The Key Role of GSH in Keeping the Redox Balance in Mammalian Cells: Mechanisms and Significance of GSH in Detoxification via Formation of Conjugates.Antioxidants (Basel, Switzerland) · 2023Review
- Skeletal muscle and erythrocyte redox status is associated with dietary cysteine intake and physical fitness in healthy young physically active men.European journal of nutrition · 2023Article
- 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
- Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation.Frontiers in pediatrics · 2023Article
- Glutathione in Brain Disorders and Aging.Molecules (Basel, Switzerland) · 2022Review
- High-Anion-Gap Metabolic Acidosis During a Prolonged Hospitalization Following Perforated Diverticulitis: An Educational Case Report.Canadian journal of kidney health and disease · 2022Article
- The glutathione cycle shapes synaptic glutamate activity.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Antioxidants in Personalized Nutrition and Exercise.Advances in nutrition (Bethesda, Md.) · 2018Review
- Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.Journal of human genetics · 2016Article
- Article
- 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.JIMD reports · 2013Article
- Glutathione is a physiologic reservoir of neuronal glutamate.Biochemical and biophysical research communications · 2011Article
- Genetic variations in multiple drug action pathways and survival in advanced stage non-small cell lung cancer treated with chemotherapy.Clinical cancer research : an official journal of the American Association for Cancer Research · 2011Article
- Alternative RNA splicing in expression of the glutathione synthetase gene in human cells.Molecular biology reports · 2010Article
- Diagnosis of glutathione synthetase deficiency in newborn screening.Journal of inherited metabolic disease · 2009Article
- Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.American journal of human genetics · 2009Article
- Inborn errors in the metabolism of glutathione.Orphanet journal of rare diseases · 2007Review
- 5-Oxoproline reduces non-enzymatic antioxidant defenses in vitro in rat brain.Metabolic brain disease · 2007Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glutathione synthetase (GS) deficiency is a rare autosomal recessive disorder. The clinical phenotype varies widely, and nearly 30 different mutations in the GSS gene have been identified. In the present study, genotype, enzyme activity, metabolite levels and clinical phenotype were evaluated in 41 patients from 33 families. From some of the patients, data on glutathione (GSH) levels and gamma-glutamylcysteine levels in cultured fibroblasts were also available. Twenty-seven different mutations were found: 14 missense, 9 splice, 2 deletions, 1 insertion and 1 nonsense mutation. Twenty-three patients were homozygous and 18 were compound heterozygous. The moderate and severe clinical phenotypes could not be distinguished based on enzyme activity, GSH or gamma-glutamylcysteine levels in cultured fibroblasts. However, in fibroblasts, the residual GS activity was correlated with the GSH level. All mutations causing frameshifts, premature stop codons or aberrant splicing were associated with moderate or severe clinical phenotypes including haemolytic anaemia, 5-oxoprolinuria, and (in several forms) neurodevelopmental signs. The data indicate that additional genetic or environmental factors modify at least the moderate and severe phenotypes and that the clinical classification given to the patients may be influenced by variation in follow-up. The type of mutation involved can, to some extent, predict a mild versus a more severe phenotype.
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Registered trials
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