Glutathionuria

Also Known As:

Gamma-glutamyltransferase deficiency; Gamma-glutamyltranspeptidase deficiency

Networked: 11 relevant articles (0 outcomes, 0 trials/studies)

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
      - Glutathionuria: 11
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Glutathionuria: 11
Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Transferases: 6589
    - Acyltransferases: 374
      - Aminoacyltransferases
        gamma-Glutamyltransferase: 3223
        Glutathionuria: 11

Related Diseases

1.	Infertility (Sterility)
2.	Lethargy
3.	Rare Diseases (Rare Disease)
4.	Cataract (Cataracts)

Experts

1.	Almén, Gabriella: 1 article (01/2018)
2.	Asin-Cayuela, Jorge: 1 article (01/2018)
3.	Darin, Niklas: 1 article (01/2018)
4.	Leckström, Karin: 1 article (01/2018)
5.	Lindgren, Julia: 1 article (01/2018)
6.	Sikora, Per: 1 article (01/2018)
7.	Larsson, Agne: 1 article (03/2007)
8.	Ristoff, Ellinor: 1 article (03/2007)
9.	Harding, Cary O: 1 article (06/2003)
10.	Held, Patrice: 1 article (06/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Glutathionuria:

1.	gamma-Glutamyltransferase (gamma-Glutamyl Transpeptidase)IBA 03/30/2007 - "Gamma-glutamyl transpeptidase deficiency has been found in patients with CNS involvement and glutathionuria. " 01/01/1980 - "Glutathionuria: gamma-glutamyl transpeptidase deficiency." 07/08/1975 - "Glutathionuria: inborn error of metabolism due to tissue deficiency of gamma-glutamyl transpeptidase." 05/09/1997 - "Mice with genetic gamma-glutamyl transpeptidase deficiency exhibit glutathionuria, severe growth failure, reduced life spans, and infertility." 06/01/2003 - "gamma-glutamyl transpeptidase (gamma-GT) deficiency in GGT(enu1) mice is associated with glutathionemia, glutathionuria, growth retardation, infertility, lethargy, cataracts, and shortened life span. "
2.	Glutathione (Reduced Glutathione)IBA 01/01/2018 - "γ-Glutamyl transpeptidase deficiency (glutathionuria, OMIM 231950) is a rare disease, with only six patients reported in the literature, although this condition has probably been underdiagnosed due the difficulty to routinely analyze glutathione in clinical samples and to the fact that no genetic defect has been coupled to the disease so far. " 01/01/1979 - "When gamma-glutamyl transpeptidase is inhibited in vivo by injection of L- or D-gamma-glutamyl-(o-carboxy)phenylhydrazide, there is extensive glutathionuria and the blood plasma level of glutathione increases. " 01/01/1979 - "The glutathionemia and glutathionuria observed in a patient who lacks detectable gamma-glutamyltranspeptidase activity and in mice following specific inhibition of transpeptidase, support the hypothesis that the enzyme plays a major role in glutathione catabolism. " 01/01/1979 - "Translocation of intracellular glutathione to membrane-bound gamma-glutamyl transpeptidase as a discrete step in the gamma-glutamyl cycle: glutathionuria after inhibition of transpeptidase." 05/01/1999 - "Reduced glutathione, gamma-glutamylcysteine, cysteine and gamma-glutamylglutamine in gamma-glutamyltransferase deficiency."
3.	Peptidyl Transferases (Peptidyltransferase)IBA 01/01/1979 - "The glutathionemia and glutathionuria observed in a patient who lacks detectable gamma-glutamyltranspeptidase activity and in mice following specific inhibition of transpeptidase, support the hypothesis that the enzyme plays a major role in glutathione catabolism. " 01/01/1979 - "Translocation of intracellular glutathione to membrane-bound gamma-glutamyl transpeptidase as a discrete step in the gamma-glutamyl cycle: glutathionuria after inhibition of transpeptidase."
4.	Ethylnitrosourea (N-Ethyl-N-nitrosourea)IBA 05/09/1997 - "A mouse mutant with glutathionuria was discovered by screening for amino acidurias in the progeny of ethylnitrosourea-mutagenized mice. "
5.	EnzymesIBA 01/01/1979 - "The glutathionemia and glutathionuria observed in a patient who lacks detectable gamma-glutamyltranspeptidase activity and in mice following specific inhibition of transpeptidase, support the hypothesis that the enzyme plays a major role in glutathione catabolism. "
6.	Cysteine (L-Cysteine)FDA Link 05/01/1999 - "Reduced glutathione, gamma-glutamylcysteine, cysteine and gamma-glutamylglutamine in gamma-glutamyltransferase deficiency."
7.	Amino Acids FDA Link 07/01/1986 - "There is good correlation between the affinity of gamma-glutamyl transpeptidase for various gamma-glutamyl amino acids and the extent of glutathionuria. " 07/01/1986 - "Inhibition of gamma-glutamyl transpeptidase and induction of glutathionuria by gamma-glutamyl amino acids."
8.	gamma-glutamylglutamineIBA 05/01/1999 - "Reduced glutathione, gamma-glutamylcysteine, cysteine and gamma-glutamylglutamine in gamma-glutamyltransferase deficiency."
9.	anthglutinIBA 01/01/1979 - "When gamma-glutamyl transpeptidase is inhibited in vivo by injection of L- or D-gamma-glutamyl-(o-carboxy)phenylhydrazide, there is extensive glutathionuria and the blood plasma level of glutathione increases. "
10.	gamma-glutamylcysteineIBA 05/01/1999 - "Reduced glutathione, gamma-glutamylcysteine, cysteine and gamma-glutamylglutamine in gamma-glutamyltransferase deficiency."