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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
2008
Highly Cited
2008
Satellite-based estimation of surface vapor pressure deficits using MODIS land surface temperature data
Abstract Vapor Pressure Deficit (VPD) is a principle mediator of global terrestrial CO 2 uptake and water vapor loss through… Expand
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Review
2007
Review
2007
Inborn errors in the metabolism of glutathione
Glutathione is a tripeptide composed of glutamate, cysteine and glycine. Glutathione is present in millimolar concentrations in… Expand
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Review
2005
Review
2005
Glutathione synthetase deficiency
  • Runa Njålsson
  • Cellular and Molecular Life Sciences CMLS
  • 2005
    • Corpus ID: 59244
Abstract.Glutathione (GSH), one of the most important antioxidants in the eukaryotic organism, is synthesized in a two-step… Expand
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2000
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… Expand
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1999
1999
5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle.
UNLABELLED In patients with defects in the synthesis, breakdown and metabolism of glutathione (GSH), like glutathione synthetase… Expand
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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 gamma-glutamylcysteine and glycine in an ATP-dependent… Expand
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Highly Cited
1998
Highly Cited
1998
Transient 5-oxoprolinuria and high anion gap metabolic acidosis: clinical and biochemical findings in eleven subjects.
We describe biochemical and clinical features of 11 subjects (ages, 1.2-84 years, nine females and two males) with transient 5… Expand
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Highly Cited
1995
Highly Cited
1995
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…
I. INTRODUCTION II. PERSPECTIVES III. GENERAL THEMES IV. CANCER V. CHROMOSOMES VI. DIAGNOSTIC APPROACHES VII. CARBOHYDRATES VIII… Expand
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1987
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
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
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