Concept information
...
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Sulfatidosis
...
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Sulfatidosis
...
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Sulfatidosis
...
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Sulfatidosis
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
-
Finnish
-
Swedish
URI
http://www.yso.fi/onto/mesh/D052517
{{label}}
{{#each values }} {{! loop through ConceptPropertyValue objects }}
{{#if prefLabel }}
{{/if}}
{{/each}}
{{#if notation }}{{ notation }} {{/if}}{{ prefLabel }}
{{#ifDifferentLabelLang lang }} ({{ lang }}){{/ifDifferentLabelLang}}
{{#if vocabName }}
{{ vocabName }}
{{/if}}