Nephropathic cystinosis is a type of unusual autosomal recessive LSD which is caused by mutations in the CTNS gene (encodes a lysosomal cystine transporter, cystinosin) [48]; the treatment of cystinosis are currently based on the drug called cysteamine which reduces the cystine level [49]. Here, CTNS is linked to nephropathic cystinosis.