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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.
2004
2004
The cerebral lesions in a patient with generalized glutathione deficiency and pyroglutamic aciduria (5-oxoprolinuria)
SummaryThe clinical and pathologic features of a male patient with generalized glutathione deficiency and pyroglutamic aciduria… 
1994
1994
Effect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiency.
Highly Cited
1991
Highly Cited
1991
Capillary electrophoresis for diagnosis and studies of human disease, particularly metabolic disorders.
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… 
1981
1981
Glutathione synthetase–deficient lymphocytes and acetaminophen toxicity
Toxic electrophilic metabolites of acetaminophen are detoxified by conjugation with glutathione. Cellular glutathione content of… 
1978
1978
The gamma-glutamyl cycle and amino acid transport. Studies of free amino acids, gamma-glutamyl-cysteine and glutathione in erythrocytes from patients with 5-oxoprolinuria (glutathione synthetase…
EVIDENCE is accumulating that the tripeptide glutathione (γ-glutamyl-cysteinyL-glycine) participates in a variety of fundamental… 
1976
1976
Erythrocyte glutathione synthetase in 5-oxoprolinuria: kinetic studies of the mutant enzyme and detection of heterozygotes.
Highly Cited
1972
Highly Cited
1972
Pyroglutamic aciduria: studies on the enzymic block and on the metabolic origin of pyroglutamic acid.
1972
1972
The metabolism of L-pyroglutamic acid in fibroblasts from a patient with pyroglutamic aciduria: the demonstration of an L-pyroglutamate hydrolase system.
Intact fibroblasts cultured from skin biopsies from normal humans and from a patient with pyroglutamic aciduria were shown to… 
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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