FAQ

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… (More)

Topic mentions per year

Topic mentions per year

1970-2018
024619702018

Related topics

Related topics

3 relations

Broader (2)

Amino Acid Metabolism, Inborn ErrorsGLUTATHIONE SYNTHASE
congenital deficiency

Related mentions per year

Related mentions per year

1939-2018
19401960198020002020
Gluthathione synthetase deficiency
Amino Acid Metabolism, Inborn Errors
congenital deficiency
GLUTATHIONE SYNTHASE

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2005
2005
Acetaminophen-induced anion gap metabolic acidosis and 5-oxoprolinuria (pyroglutamic aciduria) acquired in hospital.
A rare cause of high anion gap acidosis is 5-oxoproline (pyroglutamic acid), an organic acid intermediate of the gamma-glutamyl… (More)
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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… (More)
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1999
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… (More)
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1998
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… (More)
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1998
1998
Transient 5-oxoprolinuria (pyroglutamic aciduria) with systemic acidosis in an adult receiving antibiotic therapy.
5-Oxoprolinuria is a recognized condition with increased urinary excretion of 5-oxoproline and is associated with a variety of… (More)
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1997
1997
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.
Severe glutathione synthetase (GS) deficiency is a rare genetic disorder with neonatal onset. The enzymatic block of the gamma… (More)
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Highly Cited
1996
Highly Cited
1996
[Glutathione synthetase deficiency].
CASE REPORT The patient was a boy born in June, 1990. The proband's father had a history of nonspherocytic hemolytic anemia. The… (More)
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1994
1994
High-resolution 1H-NMR spectroscopy of blood plasma for metabolic studies.
Although spin-echo techniques are often used to obtain 1H-NMR spectra of serum or plasma samples, they do not provide reliable… (More)
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1993
1993
Induction of 5-oxoprolinuria in the rat following chronic feeding with N-acetyl 4-aminophenol (paracetamol).
The urine of rats fed on 1% paracetamol in the diet for up to 10 weeks was analysed using 500 MHz 1H NMR spectroscopy. After 3… (More)
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1974
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… (More)
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