A therapeutic trial with N-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria)

Journal of Inherited Metabolic Disease
J MårtenssonA Larsson

Abstract

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). Clinical and neurophysiological examinations of the patients indicated progressive neurological damage. The pretreatment concentrations of total and free glutathione in leukocytes were 15-20% of normal, whereas the corresponding gamma-glutamylcysteine levels were increased. In plasma, the glutathione concentrations were similarly decreased, but no gamma-glutamylcysteine was detected. Total glutathione in erythrocytes was markedly decreased. Low urinary excretion of cysteinylglycine, cyst(e)ine, taurine, N-acetylcysteine, mercaptolactate and mercaptoacetate and reduced leukocyte taurine levels constituted additional evidence of decreased intracellular availability of cysteine, i.e. glutathione. Oral supplementation with N-acetylcysteine (5 mg/kg x 3/day) had no effect on acid-base balance, erythrocyte glutathione levels or 5-oxoproline concentrations in plasma and urine. In leukocytes, the glutathione concentrations were increased by 20-30%, whereas the gamma-glutamylcysteine levels were essentially unaltered. In parallel,...Continue Reading

References

Nov 15, 1976·Clinica Chimica Acta; International Journal of Clinical Chemistry·A LarssonU Porath
Dec 7, 1977·Biochemical and Biophysical Research Communications·O W GriffithA Meister
Jan 1, 1978·International Review of Cytology·N S Kosower, E M Kosower
Oct 25, 1979·The New England Journal of Medicine·L A BoxerJ D Schulman
Dec 1, 1985·European Journal of Clinical Investigation·J MårtenssonA Larsson
Feb 1, 1986·Metabolism: Clinical and Experimental·J Mårtensson
Jun 1, 1985·Archives of Biochemistry and Biophysics·M E AndersonA Meister
Jan 1, 1974·Journal of Biochemistry·N TateishiY Sakamoto
Jun 1, 1974·Proceedings of the National Academy of Sciences of the United States of America·V P WellnerA Larsson
Jan 1, 1974·Acta paediatrica Scandinavica·L HagenfeldtR Zetterström
Sep 1, 1974·Archives of Internal Medicine·F RichardsC L Spurr
Jan 1, 1983·Annual Review of Biochemistry·A Meister, M E Anderson
Nov 30, 1983·Clinica Chimica Acta; International Journal of Clinical Chemistry·A LarssonP Moldéus
Jun 8, 1984·Journal of Chromatography·B Kågedal, M Källberg
May 1, 1982·Metabolism: Clinical and Experimental·J Mårtensson

❮ Previous
Next ❯

Citations

Jan 1, 1992·European Journal of Clinical Pharmacology·H A KleinveldA F Stalenhoef
Jan 1, 1997·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·T UrbanB Lindeke
Aug 17, 2012·Journal of Proteome Research·Jingyi LuWeiping Jia
Mar 16, 2006·Proceedings of the National Academy of Sciences of the United States of America·Rabindra TirouvanziamLeonard A Herzenberg
Aug 19, 2014·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Alfred A Vichot, Asghar Rastegar
Jul 13, 2000·Critical Care Medicine·B A Mizock, C Mecher
Jun 1, 1994·Prenatal Diagnosis·N J ManningB Carlsson
Apr 20, 2010·Drug Safety : an International Journal of Medical Toxicology and Drug Experience·George LiamisMoses Elisaf
Mar 23, 2006·Nature Reviews. Neuroscience·Nigel Eastman, Colin Campbell
Aug 21, 2007·Clinical Journal of the American Society of Nephrology : CJASN·Andrew Z FenvesMichael Emmett
May 3, 2019·Clinical Toxicology : the Official Journal of the American Academy of Clinical Toxicology and European Association of Poisons Centres and Clinical Toxicologists·Michael E MullinsDennis J Dietzen
Jan 1, 1990·Growth Factors·J SchreursA Miyajima
Jun 11, 2011·Journal of Hospital Medicine : an Official Publication of the Society of Hospital Medicine·Jean-Sebastien Rachoin, Elizabeth A Cerceo
Aug 1, 1997·Biological Chemistry·T E Creighton
Apr 14, 2017·Proceedings·Gregory L Hundemer, Andrew Z Fenves
Feb 1, 1994·The American Journal of the Medical Sciences·P E Morris, G R Bernard

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.