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Gluthathione synthetase deficiency

Known as: Pyroglutamic Aciduria, 5-Oxoprolinuria, Deficiency of Glutathione Synthetase 
An autosomal recessive genetic disorder caused by mutation(s) in the GSS gene, encoding glutathione synthetase. Mutation(s) in the same gene is… Expand
National Institutes of Health

Related topics

Related topics

4 relations

Broader (2)

Amino Acid Metabolism, Inborn ErrorsGLUTATHIONE SYNTHASE

Narrower (1)

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to
congenital deficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2000
Highly Cited
2000
Pyroglutamic acidemia: A cause of high anion gap metabolic acidosis
Objective To report four cases of pyroglutamic acidemia in adults causing clinically significant acidosis. Data sources Patients… Expand
Highly Cited
1999
Highly Cited
1999
Molecular basis of glutathione synthetase deficiency and a rare gene permutation event
Glutathione synthetase (GS) catalyses the production of glutathione from γ‐glutamylcysteine and glycine in an ATP‐dependent… Expand
Highly Cited
1987
Highly Cited
1987
Urinary excretion of 5-oxoproline (pyroglutamic aciduria) as an index of glycine insufficiency in normal man.
1. The evidence is accumulating to suggest that glycine, the simplest amino acid, is conditionally essential in man. Benzoic acid… Expand
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Highly Cited
1981
Highly Cited
1981
Induction and repair of single-strand DNA breaks after X-irradiation of human fibroblasts deficient in glutathione.
Using the unwinding technique in weak alkali, the induction and repair of DNA single-strand breaks was determined after aerobic… Expand
Highly Cited
1979
Highly Cited
1979
Protection of granulocytes by vitamin E in glutathione synthetase deficiency.
The administration of vitamin E (alpha-tocopherol) was found to improve polymorphonuclear leukocyte function in an infant with… Expand
Highly Cited
1979
Highly Cited
1979
Oxidative Damage to Neutrophils in Glutathione Synthetase Deficiency
Summary. Several episodes of neutropenia were observed in a child with glutathione synthetase deficiency (5‐oxoprolinuria… Expand
Highly Cited
1975
Highly Cited
1975
Regulation of gamma-glutamyl-cysteine synthetase by nonallosteric feedback inhibition by glutathione.
Gamma-Glutamyl-cysteine synthetase is inhibited by glutathione under conditions similar to those which prevail in vivo, thus… Expand
Highly Cited
1974
Highly Cited
1974
Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria).
Enzyme studies on placenta, cultured skin fibroblasts, and erythrocytes from two sisters with the inborn error 5-oxoprolinuria… Expand
Highly Cited
1972
Highly Cited
1972
-Glutamyl-cysteine synthetase deficiency. A cause of hereditary hemolytic anemia.
Abstract In some families with hemolytic anemia and a low level of reduced glutathione in erythrocytes, the disorder is… Expand
Highly Cited
1971
Highly Cited
1971
Screening for metabolic disorders using gas-liquid chromatography, mass spectrometry, and computer technique.
A system for multicomponent analyses of biological materials, using gas-liquid chromatography (GLC) for separation purpose, mass… Expand
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