An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation.
- Author:
Soon Jung SHIN
1
;
Ja Hye KIM
;
Yoo Mi KIM
;
Gu Hwan KIM
;
Beom Hee LEE
;
Han Wook YOO
Author Information
- Publication Type:Case Report
- Keywords: Adrenoleukodystrophy; ABCD1
- MeSH: Accidents, Traffic; Adrenoleukodystrophy; Brain; Genetic Testing; Humans; Membranes; Neurologic Manifestations; Parents; Peroxisomes
- From:Journal of Genetic Medicine 2013;10(1):43-46
- CountryRepublic of Korea
- Language:English
- 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.
