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KMID : 0918520140140010054
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Journal of the Korean Society of Inherited Metabolic Disease
2014 Volume.14 No. 1 p.54 ~ p.59
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A Case of Cerebral Adrenoleukodystrophy with c.1252C>T Mutation inABCD1 Gene
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Kim Yoo-Seon
Huh Rimm
Kwun Young-Hee
Lee Ji-Eun
Cho Sung-Yoon
Ki Chang-Seok
Jin Dong-Kyu
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Abstract
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Adrenoleukodystrophy is an X-linked genetic disease resulting from mutations in the ABCD1 gene. Cerebral adrenoleukodystrophy is one of the phenotypes of adrenoleukodystrophy and shows progressive demyelination of brain white matter and adrenal insufficiency. We report a nine year old male who presented with rapidly progressive cognitive and neurologic deterioration. He had abnormal findings in brain imaging and elevated very long chain fatty acid level in serum. Mutation analysis of ABCD1 revealed a c. 1252C>T (p.Arg418Trp) mutation which was previously known but not reported in Korea.
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KEYWORD
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Adrenoleukodystrophy, ABCD1, Demyelination
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