Adrenoleukodystrophy (Q41172): Difference between revisions
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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. |
Statements
CID11:8A44.1
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dki-india-8A44.1
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Concluído
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