More recently, glycogenoses (Pompe and Danon diseases), multiple sulfatase deficiency (MSD), mucopolysaccharidoses (MPS IIIA, MPS VI), sphingolipidoses (NPC1, NPC2, GM1 gangliosidosis, Gaucher and Fabry disease), mucolipidoses (MLII, MLIII, MLIV) and ceroid lipofuscinoses (CLN10, CLN3) have all shown an impairment in this pathway [47]. This evidence concerns the gene MCOLN1 and Fabry disease.