胱胺酸症

胱胺酸症（）是溶小體貯積症的一種，因第17對染色體短臂13位置的CTNS基因發生缺損，導致將胱胺酸攜出溶小體的運輸酶功能異常，胱胺酸堆積溶小體上，進而造成器官的病變。

其發生率為1/200000。

遺傳方面，其遺傳方式為體染色體隱性遺傳疾病。

參考資料
罕見遺傳疾病一點通

外部連結
 Cystinosis Foundation, Inc  - A 501(c)(3) non-profit organization, educating and supporting patients, families, and medical professionals since 1983.
 Cystinosis Research Network  - a non-profit organization advocating research, providing family assistance, and educating the public about cystinosis.
Cystinosis Patient Registry  - contribute to research and be informed of available clinical trials and studies
GeneReviews/NCBI/NIH/UW entry on Cystinosis 
 Cystinosis  - Cystinosis Research Foundation- an international research support and education foundation
 Know Cystinosis  - a resource for the latest disease information and how to diagnose, manage, and live with Cystinosis
 BC Health Guide 
 Cystinosis Foundation UK  - a UK Charity Supporting Families & Research
 Cystinosis Foundation Ireland  - an all-volunteer Irish Charity investing in Research and supporting those living with Cystinosis in Ireland
 Hide and Seek Foundation For Lysosomal Disease Research 

Category:常染色体隐性遗传疾病
Category:氨基酸代谢紊乱
Category:溶酶体贮积症