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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↑ 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 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 pyruvate carrier deficiency

Where it sits in the disease tree

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