Mitochondrial proton-transporting ATP synthase complex deficiency

MONDO:0014471

A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).

Also known as: isolated ATP synthase deficiency, isolated mitochondrial respiratory chain complex V deficiency

13 clinical trials for this condition and its sub-types, 0 tagged with Mitochondrial proton-transporting ATP synthase complex deficiency itself.

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↑ Combined oxidative phosphorylation deficiency (0)

Sub-types of Mitochondrial proton-transporting ATP synthase complex deficiency

Including sub-types (13) Tagged with Mitochondrial proton-transporting ATP synthase complex deficiency (0)

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