Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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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)
  • Received : 2013.05.23
  • Accepted : 2013.06.05
  • Published : 2013.06.30
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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.

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References

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