Mitochondrial pyruvate carrier deficiency

MONDO:0013877

An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation.

Also known as: mitochondrial pyruvate carrier deficiency, MPYCD

13 clinical trials for this condition and its sub-types, 0 tagged with Mitochondrial pyruvate carrier deficiency itself.

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Where it sits in the disease tree

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Part of

↑ Autosomal recessive disease (999) ↑ Inborn mitochondrial metabolism disorder (127) ↑ Pyruvate metabolism disorder (31)

Including sub-types (13) Tagged with Mitochondrial pyruvate carrier deficiency (0)

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

New drug aims to tame hard-to-control seizures in rare mitochondrial disorders

Disease control Stopped early

This study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of …

Phase 2/3 • Sponsor: PTC Therapeutics • Aim: Disease control

Last updated Jun 27, 2026 12:03 UTC

Mitochondrial pyruvate carrier deficiency

Where it sits in the disease tree

New drug aims to tame hard-to-control seizures in rare mitochondrial disorders