The amino acid, cystine, is an amino acid stored in the lysosome of cells. In Cystinosis, the transporter for cystine is dysfunctional, causing a build up of cystine in the cells which then crystallise. These crystals quickly create toxic levels of cystine in the body, causing cellular dysfunction and even cellular death. Soft tissue and all organs are directly affected by this crystallisation, including the kidneys, eyes, liver, muscles, and central nervous system.
The most common and severe form of Cystinosis. Symptoms begin in infancy and often before the first year of life.
Symptoms include failure to thrive, height retardation, rickets, vomiting, loss of appetite, constipation and photophobia.
Late-onset Nephropathic is not usually diagnosed before the age of 12 and the disease progresses slowly.
Cystine crystals are present in the cornea and conjunctiva of the eye and in the bone marrow.
Adult (Benign or Non-Nephropathic) Cystinosis begins in adulthood and does not result in any kidney impairment.
Cystine crystals accumulate in the cornea and conjunctiva of the eye and photophobia is present.