Pyruvate dehydrogenase complex E1-alpha subunit deficiency (Q83526)
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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 |
||
| 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. |
Statements
CID11:ID_1253259207
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dki-india-ID_1253259207
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Concluído
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13 August 2026
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