Pyruvate dehydrogenase complex E1-beta subunit deficiency (Q83522)
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Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, ) characterised by severe lactic acidosis, developmental delay and hypotonia. There are no specific clinical features that distinguish this condition from pyruvate dehydrogenase E1-alpha deficiency.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_151727900 |
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| English | Pyruvate dehydrogenase complex E1-beta subunit deficiency |
Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, ) characterised by severe lactic acidosis, developmental delay and hypotonia. There are no specific clinical features that distinguish this condition from pyruvate dehydrogenase E1-alpha deficiency. |
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CID11:ID_151727900
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dki-india-ID_151727900
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Concluído
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13 August 2026
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