This report describes general characteristics of the group of diseases classified as combined oxidative phosphorylation deficiency (COXPD). Combined oxidative phosphorylation deficiency is a genetically heterogeneous disorder with many causative genes and mapped loci. A comprehensive list of COXPD subtypes, as defined by OMIM (which number over 50 to date), can be found by following the link in the "OMIM phenotypic series" section below. A subset of these are listed in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
[updated Apr. 2021 by FlyBase; FBrf0222196]
Combined oxidative phosphorylation deficiency is an autosomal recessive multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system. Onset occurs at or soon after birth, and features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction. Death usually occurs in the first weeks or years of life (summary by Smits et al., 2011; pubmed:21119709). [from MIM:609060; 2021.04.17]
