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1981 1
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Page 1
Patients with genetic defects in the gamma-glutamyl cycle.
Ristoff E, Larsson A. Ristoff E, et al. Chem Biol Interact. 1998 Apr 24;111-112:113-21. doi: 10.1016/s0009-2797(97)00155-5. Chem Biol Interact. 1998. PMID: 9679548 Review.
Therapeutic trials with GSH analogues, N-acetylcysteine and GSH esters have been carried out. Glutathione synthetase deficiency restricted to erythrocytes results in hemolytic anemia but no 5-oxoprolinuria. gamma-Glutamyl transpeptidase deficiency is associated with …
Therapeutic trials with GSH analogues, N-acetylcysteine and GSH esters have been carried out. Glutathione synthetase deficienc …
New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition.
Calpena E, Deshpande AA, Yap S, Kumar A, Manning NJ, Bachhawat AK, Espinós C. Calpena E, et al. Eur J Pediatr. 2015 Mar;174(3):407-11. doi: 10.1007/s00431-014-2397-0. Epub 2014 Aug 17. Eur J Pediatr. 2015. PMID: 25129617
We describe the clinical context of a young girl who manifested 5-oxoprolinuria together with dusky episodes and who is compound heterozygote for two novel OPLAH variations: p.G860R and p.D1241V. To gain insight into the aetiology of the 5-oxoprolinase deficiency …
We describe the clinical context of a young girl who manifested 5-oxoprolinuria together with dusky episodes and who is compound heterozygot …
Inborn errors in the metabolism of glutathione.
Ristoff E, Larsson A. Ristoff E, et al. Orphanet J Rare Dis. 2007 Mar 30;2:16. doi: 10.1186/1750-1172-2-16. Orphanet J Rare Dis. 2007. PMID: 17397529 Free PMC article. Review.
Gamma-glutamyl transpeptidase deficiency has been found in patients with CNS involvement and glutathionuria. 5-Oxoprolinase deficiency is associated with 5-oxoprolinuria but without a clear association with other symptoms. ...The aims of the treatment of g …
Gamma-glutamyl transpeptidase deficiency has been found in patients with CNS involvement and glutathionuria. 5-Oxoprolinase …
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, Alfadhel M, Barić I, Çoker M, Damli-Huber A, Faqeih EA, García Segarra N, Geraghty MT, Jåtun BM, Kalkan Uçar S, Kriewitz M, Rauchenzauner M, Bilić K, Tournev I, Till C, Sayson B, Beumer D, Ye CX, Zhang LH, Vallance H, Alkuraya FS, van Karnebeek CD. Sass JO, et al. Mol Genet Metab. 2016 Sep;119(1-2):44-9. doi: 10.1016/j.ymgme.2016.07.008. Epub 2016 Jul 22. Mol Genet Metab. 2016. PMID: 27477828
Primary 5-oxoprolinuria (pyroglutamic aciduria) is caused by a genetic defect in the gamma-glutamyl cycle, affecting either glutathione synthetase or 5-oxoprolinase. While several dozens of patients with glutathione synthetase deficiency have been repo …
Primary 5-oxoprolinuria (pyroglutamic aciduria) is caused by a genetic defect in the gamma-glutamyl cycle, affecting either glutathione …
5-oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers--a new inborn error of the gamma-glutamyl cycle.
Larsson A, Mattsson B, Wauters EA, van Gool JD, Duran M, Wadman SK. Larsson A, et al. Acta Paediatr Scand. 1981;70(3):301-8. doi: 10.1111/j.1651-2227.1981.tb16556.x. Acta Paediatr Scand. 1981. PMID: 6113726
The activities of enzymes of the gamma-glutamyl cycle were analysed in erythrocytes, leukocytes and cultured skin fibroblasts. The level of glutathione synthetase was normal, as was the affinity of this enzyme for its substrate gamma-glutamyl-cysteine. ...
The activities of enzymes of the gamma-glutamyl cycle were analysed in erythrocytes, leukocytes and cultured skin fibroblasts. The level of …
5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
Almaghlouth IA, Mohamed JY, Al-Amoudi M, Al-Ahaidib L, Al-Odaib A, Alkuraya FS. Almaghlouth IA, et al. Clin Genet. 2012 Aug;82(2):193-6. doi: 10.1111/j.1399-0004.2011.01728.x. Epub 2011 Jun 30. Clin Genet. 2012. PMID: 21651516
Gamma-glutamyl cycle is a six-enzyme cycle that represents the primary pathway for glutathione synthesis and degradation. 5-Oxoprolinase deficiency is an extremely rare disorder of the gamma-glutamyl cycle with only eight patients reported to da …
Gamma-glutamyl cycle is a six-enzyme cycle that represents the primary pathway for glutathione synthesis and degradation. 5 …
5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle.
Mayatepek E. Mayatepek E. Eur J Pediatr. 1999 Mar;158(3):221-5. doi: 10.1007/s004310051054. Eur J Pediatr. 1999. PMID: 10094443
In patients with defects in the synthesis, breakdown and metabolism of glutathione (GSH), like glutathione synthetase deficiency (GSD) and 5-oxoprolinase deficiency, urinary excretion of 5-oxoproline, an intermediate of the gamma-glutamyl cycle, …
In patients with defects in the synthesis, breakdown and metabolism of glutathione (GSH), like glutathione synthetase deficien …
Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency.
Cohen LH, Vamos E, Heinrichs C, Toppet M, Courtens W, Kumps A, Mardens Y, Carlsson B, Grillner L, Larsson A. Cohen LH, et al. Eur J Pediatr. 1997 Dec;156(12):935-8. doi: 10.1007/s004310050746. Eur J Pediatr. 1997. PMID: 9453376
We conclude that these patients suffer from a hitherto undescribed autosomal recessive disorder, unrelated to the 5-oxoprolinase deficiency of the elder sib. CONCLUSION: The present findings give evidence that 5-oxoprolinase deficiency is …
We conclude that these patients suffer from a hitherto undescribed autosomal recessive disorder, unrelated to the 5-oxoprolinase …
20 results