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Multiple Sulfatase Deficiency Disease MeSH Descriptor Data 2023


MeSH Heading
Multiple Sulfatase Deficiency Disease
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
Unique ID
D052517
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D052517
Scope Note
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.
Entry Version
MULTIPLE SULFATASE DEFIC DIS
Entry Term(s)
Juvenile Sulfatidosis
Mucosulfatidosis
Multiple Sulfatase Deficiency
Multiple Sulphatase Deficiency Disease
Sulfatidosis Juvenile, Austin Type
Sulfatidosis, Juvenile, Austin Type
Previous Indexing
Sulfatases (1973-2006)
Public MeSH Note
2007; see SPHINGOLIPIDOSES 2000-2006
History Note
2007; use SPHINGOLIPIDOSES 2000-2006
Date Established
2007/01/01
Date of Entry
2006/07/05
Revision Date
2021/07/01
Multiple Sulfatase Deficiency Disease Preferred
Sulfatidosis, Juvenile, Austin Type Narrower
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