Adrenoleukodystrophy (Q41172): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed label, description and/or aliases in pt-br, en |
Changed an Item |
||
| Property / Canonical URI | |||
| Property / Canonical URI: https://id.who.int/icd/entity/1085655586 / rank | |||
Normal rank | |||
Revision as of 07:13, 13 August 2026
X-linked genetic disorder associated with accumulation of very-long-chain fatty acids in the brain and adrenal cortex due to a mutation in the ABCD1 gene causing defects in peroxisomal oxidation. Neurological symptoms can present in childhood or adulthood with almost all patients having concurrent adrenal insufficiency.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8A44.1 |
||
| English | Adrenoleukodystrophy |
X-linked genetic disorder associated with accumulation of very-long-chain fatty acids in the brain and adrenal cortex due to a mutation in the ABCD1 gene causing defects in peroxisomal oxidation. Neurological symptoms can present in childhood or adulthood with almost all patients having concurrent adrenal insufficiency. |
