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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1651-2227.2012.02799.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia.
Mol Genet Metab
December 2024
National Human Genome Research Institute, Bethesda, MD, USA. Electronic address:
Background: Impaired oxidation of branched chain amino acids may give rise to volatile organic compounds (VOCs). We hypothesized that VOCs will be present in exhaled breath of participants with propionic acidemia (PA), and their relative abundance would correlate with clinical and biochemical characteristics of the disease.
Methods: We enrolled 5 affected participants from a natural history study of PA (ClinicalTrials.
Renal phenotyping in a hypomorphic murine model of propionic aciduria reveals common pathomechanisms in organic acidurias.
Sci Rep
December 2024
Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center, University of Freiburg, Breisacherstr. 62, 79106, Freiburg, Germany.
Mutations in the mitochondrial enzyme propionyl-CoA carboxylase (PCC) cause propionic aciduria (PA). Chronic kidney disease (CKD) is a known long-term complication. However, good metabolic control and standard therapy fail to prevent CKD.
View Article and Find Full Text PDFSpectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.
PeerJ
December 2024
Prenatal Diagnosis Center, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China.
To determine the disease spectrum and genetic characteristics of inborn errors of metabolism (IEM) in Xinjiang province in the northwest of China, 41,690 newborn babies were screening by tandem mass spectrometry from November 2018 to December 2021. Of these, 57 newborn babies were referred for genetic analysis by next-generation sequencing, which was validated by Sanger sequencing. A total of 36 newborn babies and one relative were diagnosed with IEM, and the overall positive predictive value was 29.
View Article and Find Full Text PDFImproving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations.
Eur J Med Res
November 2024
National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.
Background: Methylmalonic acidemia (MMA) is one of the most common hereditary organic acid metabolism disorders that endangers the lives and health of infants and children. Early detection and intervention before the appearance of a newborn's clinical symptoms can control disease progression and prevent or mitigate its serious consequences.
Methods: 42,004 newborns from two Chinese populations were included in the study.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!