Pyruvate dehydrogenase complex deficiency (Q40050): Difference between revisions
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Revision as of 05:42, 13 August 2026
Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterised by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal to later-onset neurological disorders.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C53.02 |
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| English | Pyruvate dehydrogenase complex deficiency |
Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterised by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal to later-onset neurological disorders. |
