Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

Synonyms

10 entry terms
  • Mucosulfatidosis
  • Multiple Sulfatase Deficiency
  • Multiple Sulphatase Deficiency Disease
  • Multiple Sulfatase Deficiencies
  • Juvenile Sulfatidosis
  • Sulfatidosis Juvenile, Austin Type
  • Sulfatidosis, Juvenile, Austin Type
  • Juvenile Sulfatidoses
  • Sulfatidoses, Juvenile
  • Sulfatidosis, Juvenile

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2007; use SPHINGOLIPIDOSES 2000-2006

MeSH Record

Previous Indexing

  • Sulfatases (1973-2006)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.435.825w.850w.750w
  2. C16w.320w.565w.189.435.825w.850w.750w
  3. C16w.320w.565w.398w.641w.803w.925w.750w
  4. C16w.320w.565w.595w.554.825w.850w.750w
  5. C18.452w.132.100.435.825w.850w.750w
  6. C18.452w.584w.563w.641w.803w.925w.750w
  7. C18.452w.648w.189.435.825w.850w.750w
  8. C18.452w.648w.398w.641w.803w.925w.750w
  9. C18.452w.648w.595w.554.825w.850w.750w

AMA Style

References

  1. National Library of Medicine. Multiple Sulfatase Deficiency Disease. Medical Subject Headings (MeSH). 2026. Unique ID D052517. http://id.nlm.nih.gov/mesh/2026/D052517
  2. Multiple Sulfatase Deficiency Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Multiple_sulfatase_deficiency
  3. Multiple Sulfatase Deficiency Disease. In: Wikidata. https://www.wikidata.org/wiki/Q3281227