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.
Also Known As:
Mucosulfatidosis; Multiple Sulfatase Deficiency; Sulfatidosis, Juvenile, Austin Type; Juvenile Sulfatidosis; Multiple Sulphatase Deficiency Disease; Sulfatidosis Juvenile, Austin Type; Juvenile Sulfatidoses; Multiple Sulfatase Deficiencies; Sulfatidoses, Juvenile; Sulfatidosis, Juvenile