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📋Overview
Adrenoleukodystrophy is a genetic disorder characterized by the accumulation of very long-chain fatty acids in the brain and adrenal glands. This buildup occurs because of a mutation in the ABCD1 gene, which prevents the body from properly metabolizing these fats and may lead to the deterioration of the myelin sheath protecting nerve cells.
The condition primarily affects males and can manifest in several distinct clinical variants. These forms include a progressive childhood cerebral type, a spinal cord involvement known as adrenomyeloneuropathy, and a variant characterized by adrenal insufficiency without initial neurological symptoms.
Additional Resources
Medical codes (for reference)
UMLS CUI: C0162309Codes are provided for reference and interoperability. They are not a diagnosis.
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