A look into…Cystinosis

Cystinosis is a rare inherited lysosomal storage disorder following the Mendelian inheritance pattern. It is caused by mutations in the CTNS gene that encodes cystinosin, a lysosomal cystine‑proton co-transporter with various functions. This results in an abnormal accumulation of the amino acid cystine within the lysosomes of all body cells…