National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Combined oxidative phosphorylation deficiency

Combined oxidative phosphorylation deficiency is a disease that affects many parts of the body. Onset occurs at or soon after birth in most cases, and features can include growth retardation, small head (microcephaly), increased muscle tone, floppiness of the trunk and head, brain disease (encephalopathy), enlarged heart muscle (cardiomyopathy), and liver dysfunction. There are many subtypes, caused by many different gene mutations. It is inherited in an autosomal recessive pattern. Treatment is supportive.[1][2]
Last updated: 1/9/2016

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Combined oxidative phosphorylation deficiency in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.

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  1. Combined oxidative phosphorylation deficiency 1. Genetics Testing Registry. http://www.ncbi.nlm.nih.gov/gtr/conditions/C1836797/.
  2. Combined oxidative phosphorylation deficiency 1. OMIM. December, 2015; http://www.omim.org/entry/609060.