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Combined oxidative phosphorylation deficiency type

Combined oxidative phosphorylation deficiency type

OMIM number: 613559

Comments closing date: 24/01/2019

Combined oxidative phosphorylation deficiency 7 (COXPD7) is an extremely rare and severe inherited genetic condition. It affects the mitochondrial cells therefore has a broad impact on the multiple body systems, with onset at birth and is life limiting. It is inherited in an autosomal recessive manner so usually carrier parents have a 25% risk in each pregnancy of having an affected child. It is a progressive disorder where an affected baby initially may develop normally, then deteriorates during infancy and early childhood.

The condition results in failure to thrive, damage to the brain, brain stem and spinal cord, eventually resulting in extensive brain damage, wheelchair dependency and a shortened life expectancy. The condition also progressively affects the vision, causing abnormal and involuntary eye movements, paralysis of the muscles within or surrounding the eye, and severely reduced vision.

Affected children have a lack of muscle coordination and weakness which affects physical movements and causes difficulty swallowing, speaking and chewing, paralysis of the face, and progressive wasting of the body muscle. Thought processes and physical movements deteriorate over time. There is no cure for the condition and due to the progressive nature of this condition those affected will require life-long medical and social supportive care.  

Review date: 27 December 2020