Pyruvate dehydrogenase E2 deficiency
Synonyms: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency | Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency | Pyruvate dehydrogenase complex component E2 deficiency
A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction mainly appearing during childhood.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Pyruvate dehydrogenase E2 deficiency?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Hope for PDCD Foundation
Support and fund the development of life-saving treatment for patients with pyruvate dehydrogenase complex deficiency and related genetic diseases.
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
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.
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.