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- Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease
- Yun Kyung Cho, Seo-Young Lee, Sang-Wook Kim
- Endocrinol Metab. 2020;35(1):188-191. Published online March 19, 2020
- DOI: https://doi.org/10.3803/EnM.2020.35.1.188
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Abstract
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ePub 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 novelABCD1 gene mutation (p.Trp664*, c.1991 G>A).-
Citations
Citations to this article as recorded by
- Ocular findings and genomics of X-linked recessive disorders: A review
Asima Hassan, YaserR Mir, RajaA H Kuchay
Indian Journal of Ophthalmology.2022; 70(7): 2386. CrossRef
- Ocular findings and genomics of X-linked recessive disorders: A review
Case Report
- A Case of Adult-Onset Adrenoleukodystrophy Combined with Moyamoya Disease.
- Yong Cheol Kim, Byoung Hyun Park, Tae Yang Yu, Ae Ryoung Jin, Hye Jung Noh, Chung Yong Yang, Ha Young Kim, Chung Gu Cho
- J Korean Endocr Soc. 2009;24(1):58-62. Published online March 1, 2009
- DOI: https://doi.org/10.3803/jkes.2009.24.1.58
- 2,405 View
- 53 Download
- 2 Crossref
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Abstract
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- Adrenoleukodystrophy (ALD) is a rare inherited metabolic disease associated with the accumulation of very long chain fatty acids (VLCFA) in the central and peripheral nervous systems and adrenal glands, and leads to leukoencephaly myeloneuropathy, adrenal insufficiency, and hypogonadism. Frequent phenotypes, which account for 80% of cases, are infantile ALD and adrenomyeloneuropathy. Adult-onset ALD is rare (1~3%). The diagnosis of X-linked ALD is based on clinical findings and abnormal plasma concentrations of VLCFA. Here, we report a rare case of adult-onset ALD, which might involve a brain vascular operation as an aggravating factor, combined with moyamoya disease, in a 35-year-old male who presented with adrenal insufficiency, abnormal brain imaging, and elevated VLCFA levels.
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Citations
Citations to this article as recorded by- Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy
Hyung Jun Park, Ha Young Shin, Hoon-Chul Kang, Byung-Ok Choi, Bum Chun Suh, Ho Jin Kim, Young-Chul Choi, Phil Hyu Lee, Seung Min Kim
Yonsei Medical Journal.2014; 55(3): 676. CrossRef - An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation
Soon-Jung Shin, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo
Journal of Genetic Medicine.2013; 10(1): 43. CrossRef
- Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy
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