Mucosulfatidosis (Q67742)

Multiple sulfatase deficiency (MSD) or Austin's disease is an extremely rare lysosomal storage disease characterised by a deficiency of all sulfatases whether lysosomal or not. Clinically, the disease combines variable proportions of clinical signs of metachromatic leukodystrophy (arylsulfatase A deficiency), mucopolysaccharidoses (types II, IIIA, IIID and VI are due to sulfatase deficiencies) and X-linked ichthyosis (steroid-sulfatase deficiency).