胱胺酸症（英语：Cystinosis）是溶小体贮积症的一种，因第17对染色体短臂13位置的CTNS基因发生缺损，导致将胱胺酸携出溶小体的运输酶功能异常，胱胺酸堆积溶小体上，进而造成器官的病变。
其发生率为1/200000。
遗传方面，其遗传方式为体染色体隐性遗传疾病。
参考资料
外部链接
- Cystinosis Foundation, Inc （页面存档备份，存于互联网档案馆） - A 501(c)(3) non-profit organization, educating and supporting patients, families, and medical professionals since 1983.
- Cystinosis Research Network （页面存档备份，存于互联网档案馆） - a non-profit organization advocating research, providing family assistance, and educating the public about cystinosis.
- Cystinosis Patient Registry （页面存档备份，存于互联网档案馆） - contribute to research and be informed of available clinical trials and studies
- GeneReviews/NCBI/NIH/UW entry on Cystinosis （页面存档备份，存于互联网档案馆）
- Cystinosis （页面存档备份，存于互联网档案馆） - Cystinosis Research Foundation- an international research support and education foundation
- Know Cystinosis （页面存档备份，存于互联网档案馆） - a resource for the latest disease information and how to diagnose, manage, and live with Cystinosis
- BC Health Guide （页面存档备份，存于互联网档案馆）
- Cystinosis Foundation UK （页面存档备份，存于互联网档案馆） - a UK Charity Supporting Families & Research
- Cystinosis Foundation Ireland （页面存档备份，存于互联网档案馆） - an all-volunteer Irish Charity investing in Research and supporting those living with Cystinosis in Ireland
- Hide and Seek Foundation For Lysosomal Disease Research （页面存档备份，存于互联网档案馆）
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