Key Elements of Diagnosis and Treatment for Men with X-Linked Adrenoleukodystrophy

X-linked adrenoleukodystrophy (ALD), caused by pathogenic variants in the ABCD1 gene, is a neurodegenerative disease associated with adrenal insufficiency. The biochemical marker of the disease is the increase of very long-chain fatty acid plasma levels. Although ALD is a rare disease (with an incidence of 1 in 17,000 births), it is the most common leukodystrophy in males across all age groups.