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[]
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-羥化脢無法順利作用，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

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