Article
Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.
BMC neurology - 25 May 2022
Koyama Shingo, Okabe Yuma, Suzuki Yuya, Igari Ryosuke, Sato Hiroyasu, Iseki Chifumi, Tanji Kazuyo, Suzuki Kyoko, Ohta Yasuyuki
Abstract excerpt
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal-recessive lipid storage disorder caused by mutations in the CYP27A1 gene encoding the key enzyme in the bile acid synthesis, sterol 27-hydroxylase. Here, we report two Japanese CTX siblings with a novel compound heterozygous CYP27A1 mutation, showing different clinical phenotypes and responses to chenodeoxycholic acid (CDCA) therapy. CASE...
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