Pyruvate dehydrogenase complex E1-alpha subunit deficiency (Q83526): Difference between revisions
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A deficiência de piruvato desidrogenase E1-alfa é a forma mais frequente de deficiência de piruvato desidrogenase (PDHD), caracterizada por acidose láctica variável, atraso do desenvolvimento psicomotor hipotonia e disfunção neurológica. | |||
| description / en | description / en | ||
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. | |||
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. |
