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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… 
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
2015
Highly Cited
2015
A pathway map of glutamate metabolism
Glutamate metabolism plays a vital role in biosynthesis of nucleic acids and proteins. It is also associated with a number of… 
Review
2012
Review
2012
Pyroglutamic acid : throwing light on a lightly studied metabolite
Pyroglutamic acid or 5-oxoproline is the cyclic lactam of glutamic acid. Its presence in living cells has been reported from… 
Review
2006
Review
2006
Increased anion gap metabolic acidosis as a result of 5-oxoproline (pyroglutamic acid): a role for acetaminophen.
The endogenous organic acid metabolic acidoses that occur commonly in adults include lactic acidosis; ketoacidosis; acidosis that… 
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… 
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… 
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… 
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… 
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… 
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… 
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… 
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