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Concept information

Preferred term

Multiple Sulfatase Deficiency Disease  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Mucosulfatidosis
  • Multiple Sulfatase Deficiencies
  • Multiple Sulfatase Deficiency
  • Multiple Sulphatase Deficiency Disease

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.

History note

  • 2007; use SPHINGOLIPIDOSES 2000-2006

In other languages

URI

http://www.yso.fi/onto/mesh/D052517

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