Glutathione synthetase deficiency

Also Known As:

5-oxoprolinemia; 5-oxoprolinuria; Deficiency of Glutathione Synthase; Deficiency of Glutathione Synthetase; Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to; Pyroglutamic Acidemia; Pyroglutamic aciduria

Networked: 116 relevant articles (2 outcomes, 10 trials/studies)

Relationship Network

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Glutathione synthetase deficiency: 116
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Glutathione synthetase deficiency: 116
Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Ligases: 5553
    - Carbon-Nitrogen Ligases
      - Peptide Synthases: 10
        Glutathione Synthase: 61
        Glutathione synthetase deficiency: 116

Related Diseases

1.	Glutathione synthetase deficiency
2.	Metabolic Diseases (Metabolic Disease)
3.	Acidosis
4.	Hemolytic Anemia
5.	Sepsis (Septicemia)

Experts

1.	Ristoff, E: 5 articles (02/2007 - 06/2001)
2.	Mayatepek, E: 5 articles (01/2005 - 02/2000)
3.	Larsson, A: 4 articles (02/2007 - 06/2001)
4.	Carlsson, Katarina: 4 articles (07/2005 - 12/2003)
5.	Larsson, Agne: 3 articles (04/2005 - 12/2003)
6.	Njålsson, Runa: 3 articles (04/2005 - 12/2003)
7.	Norgren, Svante: 3 articles (04/2005 - 12/2003)
8.	Yap, Sufin: 2 articles (12/2015 - 03/2015)
9.	Calpena, Eduardo: 2 articles (03/2015 - 01/2013)
10.	Espinós, Carmen: 2 articles (03/2015 - 01/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Glutathione synthetase deficiency:

1.	Glutathione (Reduced Glutathione)IBA 07/01/2001 - "The diagnosis was based on demonstration of a marked decrease in GS activity in erythrocytes or cultured fibroblasts in all patients and was supported by finding a decrease in erythrocyte or fibroblast glutathione, presence of 5-oxoprolinuria, or both. " 01/11/2018 - "Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. " 07/01/2016 - "Glutathione synthetase deficiency is a rare autosomal recessive disorder resulting in low levels of glutathione and an increased susceptibility to oxidative stress. " 12/01/2015 - "• Transient 5-oxoprolinuria is well recognised in adults during episodes of severe glutathione depletion. " 02/01/2015 - "Glutathione synthetase deficiency (GSSD) is a rare disorder of glutathione metabolism with varying clinical severity. "
2.	Vitamin E FDA LinkGeneric 10/25/1979 - "Protection of granulocytes by vitamin E in glutathione synthetase deficiency." 01/01/1994 - "High-dose vitamin E therapy in glutathione synthetase deficiency." 01/01/1982 - "Chronic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency or glutathione synthetase deficiency: the role of vitamin E in its treatment." 10/25/1979 - "The administration of vitamin E (alpha-tocopherol) was found to improve polymorphonuclear leukocyte function in an infant with congenital deficiency of glutathione synthetase activity. "
3.	alpha-Tocopherol FDA Link 10/25/1979 - "The administration of vitamin E (alpha-tocopherol) was found to improve polymorphonuclear leukocyte function in an infant with congenital deficiency of glutathione synthetase activity. "
4.	Pyrrolidonecarboxylic Acid (Pyroglutamic Acid)IBA 09/01/1972 - "Pyroglutamic aciduria: studies on the enzymic block and on the metabolic origin of pyroglutamic acid." 03/01/2007 - "5-Oxoproline (pyroglutamic acid) accumulates in glutathione synthetase deficiency, an inborn metabolic defect of the gamma-glutamyl cycle. " 12/01/1995 - "The effect of L-pyroglutamic acid, a metabolite that accumulates in pyroglutamic aciduria, on different neurochemical parameters was investigated in adult male Wistar rats. " 03/15/1976 - "Extracts of erythrocytes from control subjects and patients with 5-oxoprolinuria had identical capacity to synthesize 5-oxoproline. " 03/15/1976 - "The mechanism of the concomitant overproduction of 5-oxoproline was studied using cell-free extracts of erythrocytes from control individuals and from patients with 5-oxoprolinuria. "
5.	Amino Acids FDA Link 12/01/1985 - "Sulphur amino-acid degradation in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria)." 10/29/1979 - "Association of glutathione synthetase deficiency and diminished amino acid transport in yeast." 01/08/1981 - "Studies of amino acid content and transport in glutathione-deficient erythrocytes from a patient with pyroglutamic acidemia (5-oxoprolinemia)." 12/01/1985 - "The role of a low intracellular glutathione concentration in sulphur amino-acid degradation was investigated in two sisters (10 and 13 years old) with glutathione-synthetase deficiency, by determination of the urinary excretion of sulphur amino-acids and their main degradation products. " 10/18/1991 - "Comparative analyses, using HPCE, high-performance liquid chromatography (HPLC) and an automated amino acid analyser, were carried out on urine and blood samples from patients with homocystinuria, cystinuria, glutathione synthetase deficiency and adenylosuccinase deficiency. "
6.	Glutathione Synthase (Glutathione Synthetase)IBA 04/13/2023 - "BACKGROUND Glutathione synthetase deficiency (GSD) is a rare autosomal recessive disorder caused by glutathione synthetase (GSS) gene variants that occur in 1 in 1 million individuals. " 01/01/2023 - "Glutathione synthetase deficiency (GSSD) is an autosomal-recessive metabolic disorder caused by glutathione synthetase (GSS) gene mutations. " 01/01/2023 - "Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation." 11/01/1996 - "Mutations in the glutathione synthetase gene cause 5-oxoprolinuria." 12/01/1987 - "Six of these strains were derived from patients suffering from 5-oxoprolinuria, a recessive genetic disease characterized by a deficiency in glutathione synthetase; the other cell strains were derived from healthy heterozygous or homozygous relatives of the patients. "
7.	EnzymesIBA 07/24/2019 - "Pyroglutamic acidemia is most commonly diagnosed in the pediatric population in patients with inherited autosomal recessive enzyme deficiencies. " 07/15/2004 - "Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes." 04/01/2005 - "Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency." 02/01/1998 - "5-Oxoprolinuria is a recognized condition with increased urinary excretion of 5-oxoproline and is associated with a variety of inborn metabolic defects involving the series of enzyme-linked reactions known as the gamma-glutamyl cycle. " 06/01/1978 - "In 5-oxoprolinuria, all cell types examined have grossly deficient enzyme activity and glutathione content. "
8.	Cysteine (L-Cysteine)FDA Link 07/01/2019 - "A case of high anion gap metabolic acidosis (HAGMA) and high level of 5-oxoprolinuria were noticed in an elderly female of 66 years who had multiple risk/precipitating factors and recovered well with N-acetyl cysteine infusion. " 02/25/1975 - "The finding that glutathione regulates its own synthesis by inhibiting synthesis of gamma-glutamyl-cysteine appears to explain observations on patients with 5-oxoprolinuria, who were shown to have a block in the gamma-glutamyl cycle consisting of a marked deficiency of glutathione synthetase and consequently of glutathione. " 04/01/2017 - "N-acetylcysteine, given its effect in repleting glutathione and cysteine stores, has been proposed as a potential treatment for 5-oxoprolinemia, though reports of its successful use are lacking. " 01/01/1989 - "The results indicate that N-acetylcysteine may be of value in increasing the low intracellular glutathione concentrations and cysteine availability in patients with hereditary glutathione synthetase deficiency." 09/14/1978 - "Studies of free amino acids, gamma-glutamyl-cysteine and glutathione in erythrocytes from patients with 5-oxoprolinuria (glutathione synthetase deficiency)."
9.	Ligases (Synthetase)IBA 05/06/1978 - "[Glutathion-synthetase deficiency with 5-oxoprolinuria. " 05/01/1994 - "Fibroblasts from patients with the disease 5-oxoprolinuria have reduced glutathione synthetase activity and are thus glutathione (GSH) deficient. " 12/07/1977 - "Inhibition of gamma-glutamylcysteine synthetase by cystamine: an approach to a therapy of 5-oxoprolinuria (pyroglutamic aciduria)." 12/01/2001 - "In the present study we investigated the effects of L-pyroglutamic acid (PGA), which predominantly accumulates in the inherited metabolic diseases glutathione synthetase deficiency (GSD) and gamma-glutamylcysteine synthetase deficiency (GCSD), on some in vitro parameters of energy metabolism and lipid biosynthesis. "
10.	Acetylcysteine (Siran)FDA LinkGeneric 01/01/1989 - "A therapeutic trial with N-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria)." 02/01/1994 - "Effect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiency." 02/01/1994 - "A 45-month-old girl with 5-oxoprolinuria (pyroglutamic aciduria), hemolysis, and marked glutathione depletion caused by deficiency of glutathione synthetase was followed before and during treatment with ascorbate or N-acetylcysteine. " 04/01/2017 - "N-acetylcysteine, given its effect in repleting glutathione and cysteine stores, has been proposed as a potential treatment for 5-oxoprolinemia, though reports of its successful use are lacking. " 01/01/1989 - "The results indicate that N-acetylcysteine may be of value in increasing the low intracellular glutathione concentrations and cysteine availability in patients with hereditary glutathione synthetase deficiency."

Therapies and Procedures

1.	Therapeutics 01/01/1994 - "High-dose vitamin E therapy in glutathione synthetase deficiency." 02/01/1998 - "Transient 5-oxoprolinuria (pyroglutamic aciduria) with systemic acidosis in an adult receiving antibiotic therapy." 12/07/1977 - "Inhibition of gamma-glutamylcysteine synthetase by cystamine: an approach to a therapy of 5-oxoprolinuria (pyroglutamic aciduria)."