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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 188 - 191 (4page)
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초록· 키워드
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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 inperoxisomes 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).
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등록된 정보가 없습니다.
참고문헌 (8)
참고문헌 신청
Kemp S / 2016 / Adrenoleukodystrophy : neuroendocrine pathogenesis and redefinition of natural history / Nat Rev Endocrinol 12:606~615
Huffnagel IC / 2019 / The natural history of adrenal insufficiency in X-linked adrenoleukodystrophy : an international collaboration / J Clin Endocrinol Metab 104:118~126
ACMG Board of Directors / 2013 / Points to consider for informed consent for genome/exome sequencing / Genet Med 15:748~749
Salsano E / 2012 / Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms / Orphanet J Rare Dis 7:10
Richards S / 2015 / Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology / Genet Med 17:405~424
Huffnagel IC / 2019 / The natural history of adrenal insufficiency in X-linked adrenoleukodystrophy : an international collaboration / J Clin Endocrinol Metab 104:118~126
ACMG Board of Directors / 2013 / Points to consider for informed consent for genome/exome sequencing / Genet Med 15:748~749
Salsano E / 2012 / Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms / Orphanet J Rare Dis 7:10
Richards S / 2015 / Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology / Genet Med 17:405~424
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