Novel Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease.

07:00 EST 1st March 2020 | BioPortfolio

Summary of "Novel Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease."

X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1). Degradation of very long-chain fatty acids in peroxisomes is impaired owing to ABCD dysfunction, subsequently leading to adrenomyeloneuropathy, cerebral adrenoleukodystrophy, and adrenal insufficiency. X-ALD frequently induces idiopathic Addison's disease in young male patients. Here, we confirmed the diagnosis of X-ALD in a young male patient with primary adrenal insufficiency, and identified a novel gene mutation (p.Trp664*, c.1991 G>A).


Journal Details

This article was published in the following journal.

Name: Endocrinology and metabolism (Seoul, Korea)
ISSN: 2093-5978
Pages: 188-191


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Medical and Biotech [MESH] Definitions

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