Patients with organic acidaemias have an altered thiol status

• Published in: Acta Paediatrica Vol. 101; no. 11; pp. e505 - e508
• Main Authors: Salmi, Heli, Leonard, James V., Lapatto, Risto
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.11.2012; Wiley Subscription Services, Inc
• Subjects: Adolescent; Amino Acid Metabolism, Inborn Errors - blood; Amino Acid Metabolism, Inborn Errors - metabolism; Biomarkers - blood; Case-Control Studies; Cells, Cultured; Child; Child, Preschool; Chromatography, High Pressure Liquid; Cysteine; Cysteine - blood; Cysteine - metabolism; Fibroblasts - metabolism; Glucosephosphate Dehydrogenase - blood; Glutathione; Glutathione - blood; Glutathione - deficiency; Glutathione - metabolism; Glutathione Peroxidase - blood; Glutathione Reductase - blood; Glutathione Transferase - blood; Humans; Inborn errors of metabolism; Infant; Isovaleryl-CoA Dehydrogenase - blood; Isovaleryl-CoA Dehydrogenase - deficiency; Oxidative Stress; Propionic Acidemia - blood

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...