X-linked adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder that primarily affects males. It is caused by mutations in the ABCD1 gene, which is responsible for breaking down very long-chain fatty acids. When this gene is defective, these fatty acids accumulate in the body, leading to damage in the adrenal glands and the nervous system.
Symptoms of X-ALD can vary but often include behavioral changes, difficulty in school, and problems with movement. The condition can lead to severe neurological issues and adrenal insufficiency if not managed. Early diagnosis and treatment are crucial for improving outcomes in affected individuals.