Where Is Cystinosis Located?
Cystinosis Is a Rare, Multisystem Genetic Disorder Characterized by the Accumulation of an Amino Acid Called Cystine in Different Tissues and Organs of the...
Cystinosis is a rare, multisystem genetic disorder characterized by the accumulation of an amino acid called cystine in different tissues and organs of the body including the kidneys, eyes, muscles, liver, pancreas and brain.
Where does cystinosis come from?
Cystinosis occurs due to a mutation in the gene CTNS, located on chromosome 17, which codes for cystinosin, the lysosomal cystine transporter.
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What does cystinosis do to the body?
In people with cystinosis, a buildup of cystine can lead to the formation of crystals. Cystinosis can impact many parts of the body, including the eyes, muscles, brain, heart, white blood cells, thyroid, and pancreas. Cystinosis can also cause serious problems with the kidneys.
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