Tobias Mueller, Andreas Jerrentrup, Max Jakob Bauer, Hans Walter Fritsch and Juergen Rolf Schaefer. Orphanet Journal of Rare Diseases201611:81 DOI: 10.1186/s13023-016-0467-2
Open Access: This article is distributed under the terms of the Creative Commons Attribution 4.0 International License
Friedreich Ataxia and close related scientific news. Topics related to rare diseases.
Tuesday, July 5, 2016
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Delia Yubero, Raquel Montero, Miguel A. Martín, Julio Montoya, Antonia Ribes, Manuela Grazina, Eva Trevisson, Juan Carlos Rodriguez-Aguilera, Iain P. Hargreaves, Leonardo Salviati, Plácido Navas, Rafael Artuch, Mitochondrion, Available online 30 June 2016, ISSN 1567-7249, http://dx.doi.org/10.1016/j.mito.2016.06.007.
Non-OXPHOS diseases may present with a CoQ deficiency, such as in multiple Acyl-CoA dehydrogenase deficiency (2 patients), apraxia with oculomotor ataxia and Friedreich’s ataxia. However, decreased levels of CoQ seemed not to be a consistent feature in some of these conditions given that patients who had the same disease were found to have both normal or reduced CoQ levels.
Non-OXPHOS diseases may present with a CoQ deficiency, such as in multiple Acyl-CoA dehydrogenase deficiency (2 patients), apraxia with oculomotor ataxia and Friedreich’s ataxia. However, decreased levels of CoQ seemed not to be a consistent feature in some of these conditions given that patients who had the same disease were found to have both normal or reduced CoQ levels.