Article
Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.
Internal medicine (Tokyo, Japan) - 1 Jun 2018
Sasamura Akari, Akazawa Satoru, Haraguchi Ai, Horie Ichiro, Ando Takao, Abiru Norio, Takei Hajime, Nittono Hiroshi, Une Mizuho, Kurosawa Takao, Murai Tsuyoshi, Naruse Hiromu, Nakayama Tomohiro, Kotani Kazuhiko, Remaley Alan T, Kawakami Atsushi
Abstract excerpt
Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn disruption in bile acid synthesis characterized by severe systemic xanthomas, cataracts and neurological injuries occurring before adolescence without elevation of the serum cholesterol or triglyceride levels. CTX is caused by a deficiency of the mitochondrial enzyme sterol 27-hydroxylase, which is encoded by the CYP27A1 gene. We herein...
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