ABSTRACT
Multiple sulfatase deficiency (MSD) was reported in 1965 as a metachromatic leukodystrophy (MLD) in which there were also features of mucopolysaccharidosis. In patients with MSD, the mutated enzyme is retained in the endoplasmic reticulum. The phenotypic outcome in MSD depends on the degree of residual formylglycine-generating enzyme activity and on protein stability. A juvenile-onset form of MSD was reported in which there was onset at five years of a slowly progressive quadriplegia, retinitis, and blindness. Fusion of MLD and MSD fibroblasts led to correction of arylsulfatase A deficiency. The symptomatic treatment of the leukodystrophy is supportive. Nasogastric or gastrostomy feeding may be required. Surgical fusion to stabilize the upper cervical spine may save the life of a patient or avert disabling quadriparesis. The discovery of formylglycine-generating enzyme as the sulfatase-activating enzyme has made the possibilities of enzyme replacement or gene therapy more logical.
