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An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation
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  • An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation
  • An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation
저자명
Shin. Soon-Jung,Kim. Ja Hye,Kim. Yoo-Mi,Kim. Gu-Hwan,Lee. Beom Hee,Yoo. Han-Wook
간행물명
Journal of genetic medicine
권/호정보
2013년|10권 1호|pp.43-46 (4 pages)
발행정보
대한의학유전학회
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정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
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기타언어초록

Adrenoleukodystrophy (ALD) is an X-linked disorder which has diverse constellation of clinical pictures, ranging from the severe childhood cerebral form to adrenocortical insufficiency without neurological manifestations. This disorder is caused by the mutations in the ABCD1 gene encoding the adrenoleukodystrophy protein (ALDP), a transporter in the peroxisome membrane. ALD in most cases is inherited from one parent. Here, we report an incidentally identified sporadic case with ALD after traffic accident. He had adrenocortical insufficiency as well as abnormal findings in brain image. Genetic testing of ABCD1 gene revealed a previously reported mutation. With the description of clinical features of ALD in this patient, we discussed the difficulty in determining an appropriate therapeutic option for ALD patients with minimal neurological manifestation.