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.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ 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)

Trials to join now! 5 Not yet recruiting 1 Not yet finished but already full! 4 Completed 2 Terminated 1

New DNA test could end years of uncertainty for mitochondrial disease patients

Diagnosis Not yet recruiting

This pilot study aims to develop a new digital PCR technique to more accurately diagnose mitochondrial diseases. Researchers will test the method on blood, urine, saliva, and muscle fiber samples from 4 patients. If validated, the technique could be faster and cheaper than curren…

Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Diagnosis

Last updated Jun 27, 2026 12:04 UTC

Mitochondrial proton-transporting ATP synthase complex deficiency

Where it sits in the disease tree

New DNA test could end years of uncertainty for mitochondrial disease patients