Our series includes five patients diagnosed with Wilson’s disease (WD), three with pantothenate kinase-associated neurodegeneration (PKAN), two with Niemann–Pick disease type C (NPC), two with glutaric aciduria type 1, one with Sanfilippo syndrome (Mucopolysaccharidosis Type IIIb), and one with GM2 gangliosidosis (Sandhoff disease). The gene discussed is PANK1; the disease is mucopolysaccharidosis type 3B.