Endocrinol Metab.  2020 Mar;35(1):188-191. 10.3803/EnM.2020.35.1.188.

Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease

• Cho YK
• Lee SY
• Kim SW

• KMID: 2471735
• DOI: http://doi.org/10.3803/EnM.2020.35.1.188

Abstract

X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 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 ABCD1 gene mutation (p.Trp664*, c.1991 G>A).

Keyword

Addison disease; Adrenoleukodystrophy; Genetic diseases

MeSH Terms

Addison Disease*
Adrenal Insufficiency
Adrenoleukodystrophy*
Diagnosis
Fatty Acids
Humans
Male
Membrane Proteins
Peroxisomes
Fatty Acids
Membrane Proteins

Figure

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  Fig. 1 (A) Hyperpigmented macules on palms, and slight darkening of the palmar creases. (B) Brain magnetic resonance imaging of the patient. No abnormal findings were noted in T2-weighted image (T2WI; left) and fluid attenuated inversion recovery (right) images. (C) Confirmation of hemizygous mutation of the patient, and heterozygous point mutation (p.Trp664*, c.1991G>A). Upper two rows of sequence chromatogram of the patient show the change of reference allele G to A, and lower two rows of his mother show the presence of both G and A alleles.

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