Catalog

Mucosulfatidosis

No MMS code

Link to WHO Definition

Mucosulfatidosis – http://id.who.int/icd/entity/848083807

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).