These include (with the mutated gene in parentheses): juvenile neuronal ceroid lipofuscinosis (CLN3) [48]; Scheie syndrome (IDUA) [49]; aspartylglucosaminuria (AGA) [49]; Fabry disease (GLA) [49,50]; cystinosis (CTNS) [51]. The gene discussed is CLN3; the disease is juvenile neuronal ceroid lipofuscinosis.