腦腱性黃瘤症

Cerebrotendineous xanthomatosis
类型	xanthomatosis[]、autosomal recessive metabolic cerebellar ataxia[]、neurometabolic disease[]、subcutaneous tissue disease[]、rare hereditary metabolic disease with peripheral neuropathy[]、cerebral lipidosis[]、metabolic disease with cataract[]、sterol metabolism disorder with epilepsy[]、developmental anomaly of metabolic origin[]、bile acid synthesis defect with cholestasis and malabsorption[]、syndromic dyslipidemia[]、rare genetic subcutaneous tissue disorder[]、疾病
分类和外部资源
醫學專科	醫學遺傳學、內分泌學
ICD-10	E75.5
ICD-9-CM	272.7
OMIM	213700
DiseasesDB	29239
MeSH	D019294
Orphanet	909

腦腱性黃瘤症是一先天脂質代謝異常疾病，由於2q33-qter位置上CYP27A1基因的缺損，導致細胞粒線體裡的固醇27-羥化酶無法順利作用，造成脂質中的膽甾烷醇及膽固醇無法有效地代謝而堆積在器官上，進而產生病變。

其發生率為1/50000，但此數據只代表高加索白人，全球整體數字則是未知。

遺傳方面，其遺傳方式為未知。

參考資料

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.