Synonyms: PDH | PDHC | Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal severe neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha E1-beta E2 and E3 deficiency PDHD due to E3-binding protein deficiency and PDH phosphatase deficiency (see these terms).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2026
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Pyruvate dehydrogenase deficiency?
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Advocacy Organizations
Charcot-Marie-Tooth Association
Our mission … to support the development of new treatments for CMT, to improve the quality of life for people with CMT, and, ultimately, to find a cure. Our vision … a world without CMT. CMTA was started by patients in 1986, and to this day is powered by a community of patients who are engaged in helping carry out and support our mission.
Genetic Epilepsy Team Australia
Collaboration of research and care
Hope for PDCD Foundation
Our mission is simple: to find a cure for PDCD. 1 in 40,000 children is born with PDCD; genetic medicine, combined with standards of care, small molecule therapy, and early diagnosis, will give them a fighting chance1. Our work will help advance research for AAV9 genetic medicine, which is currently the best hope for PDCD and other neurodegenerative diseases.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.