Multiple Sulfatase Deficiency Disease
Multiple Sulfatase Deficiencies
Multiple Sulfatase Deficiency
Multiple Sulphatase Deficiency Disease
Sulfatidosis Juvenile, Austin Type
Sulfatidosis, Juvenile, Austin Type
An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.