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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… 
Review
2004
Review
2004
The Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds., 8th ed., McGraw-Hill, New-York…
0006 2979/02/6705 0611$27.00 ©2002 MAIK “Nauka/Interperiodica” The previous seven editions of this book are well known to the… 
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… 
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
1975
Highly Cited
1975
Regulation of gamma-glutamyl-cysteine synthetase by nonallosteric feedback inhibition by glutathione.
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… 
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