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http://dx.doi.org/10.5734/JGM.2013.10.1.43

An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation  

Shin, Soon-Jung (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine)
Kim, Ja Hye (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine)
Kim, Yoo-Mi (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine)
Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine)
Lee, Beom Hee (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine)
Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine)
Publication Information
Journal of Genetic Medicine / v.10, no.1, 2013 , pp. 43-46 More about this Journal
Abstract
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.
Keywords
Adrenoleukodystrophy; ABCD1;
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Times Cited By KSCI : 5  (Citation Analysis)
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