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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

Papers overview

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Highly Cited
2000
Highly Cited
2000
Objective To report four cases of pyroglutamic acidemia in adults causing clinically significant acidosis. Data sources Patients… Expand
Highly Cited
1999
Highly Cited
1999
Glutathione synthetase (GS) catalyses the production of glutathione from γ‐glutamylcysteine and glycine in an ATP‐dependent… Expand
Highly Cited
1987
Highly Cited
1987
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
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
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
Summary. Several episodes of neutropenia were observed in a child with glutathione synthetase deficiency (5‐oxoprolinuria… Expand
Highly Cited
1975
Highly Cited
1975
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
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
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
A system for multicomponent analyses of biological materials, using gas-liquid chromatography (GLC) for separation purpose, mass… Expand