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Pyruvate dehydrogenase E1-alpha deficiency
rarePyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.
- Identifiers
- MONDO:0010717 OMIM:312170Orphanet:79243
- Causal genes
- PDHA1
- Also known as
- ataxia with lactic acidosis 1 · ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency · PDHAD · pyruvate dehydrogenase complex E1 component subunit alpha deficiency · pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant
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