Pyruvate dehydrogenase complex E1-alpha subunit deficiency (Q83526): Difference between revisions
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Revision as of 08:53, 15 August 2026
Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, ) characterised by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1253259207 |
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| English | Pyruvate dehydrogenase complex E1-alpha subunit deficiency |
Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, ) characterised by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction. |
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CID11:ID_1253259207
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