Contributor: Gordon K. Klintworth
The entity once designated mucopolysaccharidosis type VIII (DiFerrante syndrome) is no longer regarded as a specific mucopolysaccharidosis. It has features of mucopolysaccharidosis type IIID and is associated with a deficiency of N-acetylglucosamine-6-sulfatase, but the impaired degradation and urinary excretion of glycosaminoglycans involves keratan sulfate in addition to heparan sulfate. Scientific fraud is suspected of leading to the creation of this entity.