Multiple Sulfatase Deficiency Disease
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.
Year introduced: 2007
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Subheadings:
Tree Number(s): 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
MeSH Unique ID: D052517
Entry Terms:
- Multiple Sulphatase Deficiency Disease
- Multiple Sulfatase Deficiency
- Multiple Sulfatase Deficiencies
- Mucosulfatidosis
- Sulfatidosis, Juvenile, Austin Type
- Juvenile Sulfatidosis
- Juvenile Sulfatidoses
- Sulfatidoses, Juvenile
- Sulfatidosis, Juvenile
- Sulfatidosis Juvenile, Austin Type
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