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Quoted phrase not found in phrase index: "Glutathione synthetase deficiency without 5-oxoprolinuria"
Page 1
Genetic disorders of glutathione and sulfur amino-acid metabolism. New biochemical insights and therapeutic approaches.
[No authors listed] [No authors listed] Ann Intern Med. 1980 Aug;93(2):330-46. doi: 10.7326/0003-4819-93-2-330. Ann Intern Med. 1980. PMID: 6996553 Review.
Cysteamine and ascorbic acid deplete the cystine content of cystinotic fibroblasts in vitro, and clinical trials with these agents have been undertaken. Studies of patients with glutathione synthetase deficiency have provided new understanding of the r …
Cysteamine and ascorbic acid deplete the cystine content of cystinotic fibroblasts in vitro, and clinical trials with these agents ha …
Glutathione synthetase-deficient lymphocytes and acetaminophen toxicity.
Spielberg SP, Gordon GB. Spielberg SP, et al. Clin Pharmacol Ther. 1981 Jan;29(1):51-5. doi: 10.1038/clpt.1981.9. Clin Pharmacol Ther. 1981. PMID: 7460474
Toxic electrophilic metabolites of acetaminophen are detoxified by conjugation with glutathione. Cellular glutathione content of patients with glutathione synthetase deficiency (5-oxoprolinuria) is 10% to 20% of normal. ...The hypothesis was tes …
Toxic electrophilic metabolites of acetaminophen are detoxified by conjugation with glutathione. Cellular glutathione content of patients wi …
Metabolic acidosis and 5-oxoprolinuria induced by flucloxacillin and acetaminophen: a case report.
Lanoy C, Bouckaert Y. Lanoy C, et al. J Med Case Rep. 2016 Jun 23;10(1):184. doi: 10.1186/s13256-016-0964-x. J Med Case Rep. 2016. PMID: 27339215 Free PMC article.
We modified her antibiotic treatment, administered acetylcysteine, and her acidosis resolved. CONCLUSIONS: 5-Oxoprolinuria (pyroglutamic acid accumulation) is a rare, probably underdiagnosed cause of transient metabolic acidosis with increased anion gap....
We modified her antibiotic treatment, administered acetylcysteine, and her acidosis resolved. CONCLUSIONS: 5-Oxoprolinuria (py …
A therapeutic trial with N-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria).
Mårtensson J, Gustafsson J, Larsson A. Mårtensson J, et al. J Inherit Metab Dis. 1989;12(2):120-30. doi: 10.1007/BF01800713. J Inherit Metab Dis. 1989. PMID: 2502672
In a therapeutic trial, the effect of short-term low-dosage N-acetylcysteine supplementation on glutathione metabolism was investigated in two patients with hereditary glutathione deficiency (5-oxoprolinuria). ...The results indicate that N-acetylcysteine may …
In a therapeutic trial, the effect of short-term low-dosage N-acetylcysteine supplementation on glutathione metabolism was investigat …
Transient 5-oxoprolinuria: unusually high anion gap acidosis in an infant.
Hulley SL, Perring J, Manning N, Olpin S, Yap S. Hulley SL, et al. Eur J Pediatr. 2015 Dec;174(12):1685-8. doi: 10.1007/s00431-015-2585-6. Epub 2015 Jul 1. Eur J Pediatr. 2015. PMID: 26122794
Transient 5-oxoprolinuria is a phenomenon that is well recognised in adults. ...WHAT IS NEW: Transient 5-oxoprolinuria is a phenomenon rarely reported in the paediatric population. ...
Transient 5-oxoprolinuria is a phenomenon that is well recognised in adults. ...WHAT IS NEW: Transient 5-oxoprolinur …
What is the clinical significance of 5-oxoproline (pyroglutamic acid) in high anion gap metabolic acidosis following paracetamol (acetaminophen) exposure?
Liss DB, Paden MS, Schwarz ES, Mullins ME. Liss DB, et al. Clin Toxicol (Phila). 2013 Nov;51(9):817-27. doi: 10.3109/15563650.2013.844822. Epub 2013 Oct 11. Clin Toxicol (Phila). 2013. PMID: 24111553 Review.
A growing number of case reports and case series describe high anion gap metabolic acidosis (HAGMA) following paracetamol exposure with subsequent detection or measurement of 5-oxoproline (also called pyroglutamic acid) in blood, urine, or both. Typically 5-oxoprolinuri …
A growing number of case reports and case series describe high anion gap metabolic acidosis (HAGMA) following paracetamol exposure with subs …
Ophthalmological, psychometric and therapeutic investigation in two sisters with hereditary glutathione synthetase deficiency (5-oxoprolinuria).
Larsson A, Wachtmeister L, von Wendt L, Andersson R, Hagenfeldt L, Herrin KM. Larsson A, et al. Neuropediatrics. 1985 Aug;16(3):131-6. doi: 10.1055/s-2008-1052557. Neuropediatrics. 1985. PMID: 4047346
Two sisters with hereditary glutathione synthetase deficiency (5-oxoprolinuria) were investigated. ...In both girls mental retardation developed progressively without additional clinical neurological symptoms. Their electroretinograms wer …
Two sisters with hereditary glutathione synthetase deficiency (5-oxoprolinuria) were investigated. ...In …
Long-term clinical outcome in patients with glutathione synthetase deficiency.
Ristoff E, Mayatepek E, Larsson A. Ristoff E, et al. J Pediatr. 2001 Jul;139(1):79-84. doi: 10.1067/mpd.2001.114480. J Pediatr. 2001. PMID: 11445798
METHODS: 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. The …
METHODS: The diagnosis was based on demonstration of a marked decrease in GS activity in erythrocytes or cultured fibroblasts in all patient …
Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.
Gündüz M, Ünal Ö, Kavurt S, Türk E, Mungan NÖ. Gündüz M, et al. J Pediatr Endocrinol Metab. 2016 Apr;29(4):481-5. doi: 10.1515/jpem-2015-0308. J Pediatr Endocrinol Metab. 2016. PMID: 26669244
BACKGROUND: Glutathione synthetase (GS) deficiency is a rare inborn error of glutathione (GSH) metabolism manifested by severe metabolic acidosis, hemolytic anemia, neurological problems and massive excretion of pyroglutamic acid (5-oxoproline) in the urine. The disorder has mild …
BACKGROUND: Glutathione synthetase (GS) deficiency is a rare inborn error of glutathione (GSH) metabolism manifested by severe metabolic aci …
More than a mnemonic.
Pereda C, Weppner WG, Balinger A, Goldberger ZD, Baudendistel TE. Pereda C, et al. J Hosp Med. 2015 Aug;10(8):547-50. doi: 10.1002/jhm.2387. Epub 2015 May 27. J Hosp Med. 2015. PMID: 26018494 No abstract available.
18 results