Pyruvate dehydrogenase E1-alpha deficiency

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Pyruvate dehydrogenase E1-alpha deficiency

Synonyms: PDHAD | Pyruvate decarboxylase deficiency | Pyruvate dehydrogenase complex E1 component subunit alpha deficiency

A disorder that is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis impaired psychomotor development hypotonia and neurological dysfunction.

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 Data version March 2024

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Pyruvate dehydrogenase E1-alpha deficiency?

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Clinical Trials

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