Patients with organic acidaemias have an altered thiol status
Article first published online: 23 AUG 2012
© 2012 The Author(s)/Acta Pædiatrica © 2012 Foundation Acta Pædiatrica
Volume 101, Issue 11, pages e505–e508, November 2012
How to Cite
Salmi, H., Leonard, J. V. and Lapatto, R. (2012), Patients with organic acidaemias have an altered thiol status. Acta Paediatrica, 101: e505–e508. doi: 10.1111/j.1651-2227.2012.02799.x
- Issue published online: 1 OCT 2012
- Article first published online: 23 AUG 2012
- Accepted manuscript online: 31 JUL 2012 09:34AM EST
- Received 11 April 2012; revised 12 July 2012; accepted 24 July 2012.
- Inborn errors of metabolism;
- Oxidative stress
Aim: To study whether patients with organic acidaemias have altered glutathione (GSH) levels and thiol redox status. Previously, organic acidaemias have been associated with mitochondrial dysfunction and oxidative stress, suggesting an increased need for antioxidant protection. Furthermore, dietary protein restriction may impair GSH synthesis in these diseases.
Methods: In children with organic acidaemias, cysteine (CYSH) and GSH concentrations in plasma and erythrocytes as well as erythrocyte GSH peroxidase, GSH reductase, GSH S-transferase and glucose-6-phosphate dehydrogenase activities were studied. In addition, GSH and CYSH concentrations were measured in human fibroblasts exposed to organic acids.
Results: Patients with organic acidaemias had lower plasma GSH concentration than their controls. A greater fraction of GSH and CYSH in the patients’ plasma was oxidized, suggesting decreased GSH synthesis and increased consumption.
Conclusion: Patients with organic acidaemias may have a relative GSH deficiency. With further research, these results could also have therapeutic implications.