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Pyruvate dehydrogenase E1-beta deficiency

MONDO:0013580

Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.

Also known as: PDHBD, pyruvate dehydrogenase E1-beta deficiency, pyruvate dehydrogenase complex E1 component subunit beta deficiency, pyruvate dehydrogenase E1-BETA deficiency

19 clinical trials for this condition and its sub-types.

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Broader categories

Disease (717) Nervous system disorder (243) Metabolic disease (241) Hereditary disease (188) Peripheral nervous system disorder (119) Neuromuscular disease (110) Peripheral neuropathy (92) Inborn mitochondrial metabolism disorder (59) Inborn errors of metabolism (47) Mitochondrial disease (40)

Trials to join now! 9 Not yet recruiting 1 Not yet finished but already full! 4 Completed 3 Terminated 2

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