Pyruvate dehydrogenase complex E3-binding protein deficiency (Q83520)
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Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, ) characterised by variable lactic acidosis and neurological dysfunction.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1340729972 |
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| English | Pyruvate dehydrogenase complex E3-binding protein deficiency |
Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, ) characterised by variable lactic acidosis and neurological dysfunction. |
