mucolipidosis II, III, IV, Salla disease), (3) defects of lysosomal enzymes or transport and activator proteins (sphingolipidoses: Gaucher disease, Niemann-Pick disease, Fabry disease, Faber disease, Krabbe disease) and (4) defects in degradation of gangliosides (GM I, GM II gangliosidosis, Tay Sachs disease, Sandhoff disease). Here, PPP1R3A is linked to mucolipidosis type II.