X-linked adrenoleukodystrophy is an X-linked recessive disorder affecting approximately 1 in 21,000 males, and is estimated to be the cause of adrenal insufficiency in approximately 35% of patients with idiopathic Addison's disease. The disease is caused by defective beta-oxidation of fatty acids in peroxisomes that leads to elevated serum concentrations of very-long-chain saturated fatty acids. The accumulation causes a primary adrenal insufficiency and progressive neurological dysfunction. This article presents a case of X-linked adrenoleukodystrophy in its milder form, adrenomyeloneuropathy.
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| http://dx.doi.org/10.4076/1757-1626-2-7995 | DOI Listing |
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