Pyruvate dehydrogenase complex deficiency (Q40050): Difference between revisions
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Deficiência de piruvato desidrogenase (PDHD) é um transtorno neurometabólico raro, caracterizado por uma ampla gama de sinais clínicos com componentes metabólicos e neurológicos de gravidade variável. As manifestações variam de transtornos neurológicos neonatais graves frequentemente fatais até aqueles de início tardio. | |||
| description / en | description / en | ||
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. | |||
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 |
||
| 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. |
