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
[http://web.tfrd.org.tw/article.html?articleID=Cystinosis&submenuIndex=0 罕見遺傳疾病一點通]
外部連結
- [http://www.cystinosisfoundation.org Cystinosis Foundation, Inc] - A 501(c)(3) non-profit organization, educating and supporting patients, families, and medical professionals since 1983.
- [http://www.cystinosis.org Cystinosis Research Network] - a non-profit organization advocating research, providing family assistance, and educating the public about cystinosis.
*[http://www.cystinosisregistry.org Cystinosis Patient Registry] - contribute to research and be informed of available clinical trials and studies
*[http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ctns GeneReviews/NCBI/NIH/UW entry on Cystinosis]
- [http://www.cystinosisresearch.org Cystinosis] - Cystinosis Research Foundation- an international research support and education foundation
- [http://knowcystinosis.com Know Cystinosis] - a resource for the latest disease information and how to diagnose, manage, and live with Cystinosis
- [http://www.bchealthguide.org/kbase/nord/nord59.htm BC Health Guide]
- [http://www.cystinosis.org.uk Cystinosis Foundation UK] - a UK Charity Supporting Families & Research
- [http://www.cystinosis.ie Cystinosis Foundation Ireland] - an all-volunteer Irish Charity investing in Research and supporting those living with Cystinosis in Ireland
- [http://www.hideandseek.org/ Hide and Seek Foundation For Lysosomal Disease Research]
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