胱胺酸症

胱胺酸症; (英語：)
	胱氨酸
类型	胞溶體貯積症, inborn disorder of lysosomal amino acid transport[], 遺傳性疾病[], 常染色体隐性遗传病[*]
分类和外部资源
醫學專科	內分泌學
ICD-10	E72.0
ICD-9-CM	270.0
OMIM	219900、219800、219750
DiseasesDB	3382
eMedicine	ped/538
MeSH	D003554
Orphanet	213

胱胺酸症（英語：）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

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 页面存档备份，存于 - 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

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