Multiple Sulfatase Deficiency Disease

**Definition:** 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.

**Tree numbers:** - C10.228.140.163.100.435.825.850.750 - C16.320.565.189.435.825.850.750 - C16.320.565.398.641.803.925.750 - C16.320.565.595.554.825.850.750 - C18.452.132.100.435.825.850.750 - C18.452.584.563.641.803.925.750 - C18.452.648.189.435.825.850.750 - C18.452.648.398.641.803.925.750 - C18.452.648.595.554.825.850.750

**Synonyms:** - Multiple Sulphatase Deficiency Disease - Multiple Sulfatase Deficiency - Mucosulfatidosis