Multiple Sulfatase Deficiency Disease MeSH Descriptor Data 2025

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

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Sphingolipidoses [C10.228.140.163.100.435.825]
        
        Sulfatidosis [C10.228.140.163.100.435.825.850]
        
        Leukodystrophy, Metachromatic [C10.228.140.163.100.435.825.850.500]
        
        Multiple Sulfatase Deficiency Disease [C10.228.140.163.100.435.825.850.750]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]
      - Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
        
        Sphingolipidoses [C16.320.565.189.435.825]
        
        Sulfatidosis [C16.320.565.189.435.825.850]
        
        Leukodystrophy, Metachromatic [C16.320.565.189.435.825.850.500]
        
        Multiple Sulfatase Deficiency Disease [C16.320.565.189.435.825.850.750]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Lipid Metabolism, Inborn Errors [C16.320.565.398]
      - Lipidoses [C16.320.565.398.641]
        
        Sphingolipidoses [C16.320.565.398.641.803]
        
        Sulfatidosis [C16.320.565.398.641.803.925]
        
        Leukodystrophy, Metachromatic [C16.320.565.398.641.803.925.500]
        
        Multiple Sulfatase Deficiency Disease [C16.320.565.398.641.803.925.750]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Lysosomal Storage Diseases [C16.320.565.595]
      - Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
        
        Sphingolipidoses [C16.320.565.595.554.825]
        
        Sulfatidosis [C16.320.565.595.554.825.850]
        
        Leukodystrophy, Metachromatic [C16.320.565.595.554.825.850.500]
        
        Multiple Sulfatase Deficiency Disease [C16.320.565.595.554.825.850.750]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]
      - Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
        
        Sphingolipidoses [C18.452.132.100.435.825]
        
        Sulfatidosis [C18.452.132.100.435.825.850]
        
        Leukodystrophy, Metachromatic [C18.452.132.100.435.825.850.500]
        
        Multiple Sulfatase Deficiency Disease [C18.452.132.100.435.825.850.750]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Lipid Metabolism Disorders [C18.452.584]
    - Lipid Metabolism, Inborn Errors [C18.452.584.563]
      - Lipidoses [C18.452.584.563.641]
        
        Sphingolipidoses [C18.452.584.563.641.803]
        
        Sulfatidosis [C18.452.584.563.641.803.925]
        
        Leukodystrophy, Metachromatic [C18.452.584.563.641.803.925.500]
        
        Multiple Sulfatase Deficiency Disease [C18.452.584.563.641.803.925.750]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]
      - Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
        
        Sphingolipidoses [C18.452.648.189.435.825]
        
        Sulfatidosis [C18.452.648.189.435.825.850]
        
        Leukodystrophy, Metachromatic [C18.452.648.189.435.825.850.500]
        
        Multiple Sulfatase Deficiency Disease [C18.452.648.189.435.825.850.750]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Lipid Metabolism, Inborn Errors [C18.452.648.398]
      - Lipidoses [C18.452.648.398.641]
        
        Sphingolipidoses [C18.452.648.398.641.803]
        
        Sulfatidosis [C18.452.648.398.641.803.925]
        
        Leukodystrophy, Metachromatic [C18.452.648.398.641.803.925.500]
        
        Multiple Sulfatase Deficiency Disease [C18.452.648.398.641.803.925.750]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Lysosomal Storage Diseases [C18.452.648.595]
      - Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
        
        Sphingolipidoses [C18.452.648.595.554.825]
        
        Sulfatidosis [C18.452.648.595.554.825.850]
        
        Leukodystrophy, Metachromatic [C18.452.648.595.554.825.850.500]
        
        Multiple Sulfatase Deficiency Disease [C18.452.648.595.554.825.850.750]

Multiple Sulfatase Deficiency Disease Preferred

Concept UI: M0336078
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.
Terms: Multiple Sulfatase Deficiency Disease Preferred Term
Term UI T432973
Date01/11/2001
LexicalTag NON
ThesaurusID NLM (2002); Multiple Sulphatase Deficiency Disease
Term UI T370374
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Multiple Sulfatase Deficiency
Term UI T647405
Date07/28/2005
LexicalTag NON
ThesaurusID; Mucosulfatidosis
Term UI T370373
Date11/03/1999
LexicalTag NON
ThesaurusID

Sulfatidosis, Juvenile, Austin Type Narrower

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