Pyruvate dehydrogenase complex E1-beta subunit deficiency (Q83522): Difference between revisions
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A deficiência de piruvato desidrogenase E1-beta é uma forma extremamente rara de deficiência de piruvato desidrogenase (PDHD), caracterizada por acidose láctica grave, atraso no desenvolvimento e hipotonia. Não há características clínicas específicas que distingam essa condição da deficiência de E1-alfa da piruvato desidrogenase. | |||
| description / en | description / en | ||
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. | |||
Revision as of 08:53, 15 August 2026
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 |
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| 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. |
