Adrenoleukodystrophy (Q41172): Difference between revisions
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Distúrbio genético ligado ao X associado ao acúmulo de ácidos graxos de cadeia muito longa no cérebro e no córtex adrenal devido a uma mutação no gene ABCD1 que causa defeitos na oxidação peroxissômica. Os sintomas neurológicos podem se manifestar na infância ou na idade adulta, com quase todos os pacientes apresentando insuficiência adrenal concomitante. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
