Cystinosis is a rare, genetic, metabolic, lysosomal storage disease that causes an abnormal accumulation of the amino acid cystine in various organs and tissues of the body such as the kidneys, eyes, muscles, pancreas and brain.
The cystine accumulation causes widespread tissue and organ damage. Cystine accumulation can lead to kidney failure, muscle wasting, swallowing difficulty, diabetes, hypothyroidism, cerebral atrophy, photophobia, blindness, corneal ulceration, ventilatory impairment, and more. Without treatment, children with cystinosis will usually develop end stage kidney failure and die prematurely.
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Get StartedDon’t miss our May 31 event at The New York Academy of Medicine: Cystinosis Symposium – A Rare Disease Model for Comprehensive Care
Register TodayJoin us as we celebrate the 7th Annual Cystinosis Awareness Day with an electrifying regional meetup, courtesy...
Learn MoreThe New York Academy of Medicine is the location for this “first of its kind” event...
Learn MoreDaily life with cystinosis can present challenges. There are resources to help you along the way.
Learn MoreTeams of medical experts are researching every aspect of cystinosis with the purpose of understanding our disease, finding improved treatments and a cure.
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