Multiple Sulfatase Deficiency Disease

Synonyms

Juvenile Sulfatidoses

Juvenile Sulfatidosis

Mucosulfatidosis

Multiple Sulfatase Deficiencies

Multiple Sulfatase Deficiency

Multiple Sulphatase Deficiency Disease

Sulfatidoses, Juvenile

Sulfatidosis Juvenile, Austin Type

Sulfatidosis, Juvenile

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.