Pyruvate dehydrogenase phosphatase deficiency
Synonyms: PDH phosphatase deficiency
Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD see this term) characterized by lactic acidemia in the neonatal period.
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 April 2024
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Pyruvate dehydrogenase phosphatase deficiency?
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Advocacy Organizations
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
For a list of clinical trials in this disease area, please click here.