X-linked Adrenoleukodystrophy in a 20-Year-Old Male With an ABCD1 Gene Mutation: First Case From Pakistan.

Abstract

X-linked adrenoleukodystrophy (X-ALD) is a rare neurodegenerative disease characterized by genetic mutation of the ABCD1 gene. This gene encodes for transmembrane adrenoleukodystrophy protein (ALDP). Defective ALDP protein results in the accumulation of a very long chain fatty acid (VLCFA) within certain tissues and plasma. X-ALD can initially present as Addison's disease (primary adrenal insufficiency) as the accumulation of VLCFA most importantly occurs in the adrenal gland. Our 20-year-old male patient, a known case of Addison's disease, presented with vision loss, neurologic symptoms, and psychiatric issues. Neurologic symptoms included poor concentration and memory, while psychiatric problems included primarily depressive disorder and mild psychotic behavior.His Addison's disease was secondary to X-ALD. Still, he was diagnosed late due to a lack of awareness of X-ALD and a lack of resources for genetic testing in Pakistan. Therefore, the purpose of this case report is to spread knowledge and understanding of X-ALD, so that it can be ruled out as the potential cause of adrenal insufficiency in young patients, particularly males diagnosed with Addison's disease. Moreover, if the patient presents with Addison's disease and psychiatric issues, they should be tested to rule out X-ALD.