| Descriptor English: | Multiple Sulfatase Deficiency Disease | ||||||
| Descriptor Spanish: |
Enfermedad por Deficiencia de Múltiples Sulfatasas
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| Descriptor Portuguese: | Doença da Deficiência de Múltiplas Sulfatases | ||||||
| Descriptor French: | Déficit multiple en sulfatases | ||||||
| Entry term(s): |
Juvenile Sulfatidoses Juvenile Sulfatidosis Mucosulfatidosis Multiple Sulfatase Deficiencies Multiple Sulfatase Deficiency Multiple Sulphatase Deficiency Disease Sulfatidoses, Juvenile Sulfatidosis Juvenile, Austin Type Sulfatidosis, Juvenile Sulfatidosis, Juvenile, Austin Type |
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| 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 |
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| RDF Unique Identifier: | https://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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Sulfatases (1973-2006) |
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| Public MeSH Note: | 2007; see SPHINGOLIPIDOSES 2000-2006 |
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| History Note: | 2007; use SPHINGOLIPIDOSES 2000-2006 |
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| Entry Version: | MULTIPLE SULFATASE DEFIC DIS |
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| DeCS ID: | 52109 | ||||||
| Unique ID: | D052517 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2007/01/01 | ||||||
| Date of Entry: | 2006/07/05 | ||||||
| Revision Date: | 2012/07/03 |
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Multiple Sulfatase Deficiency Disease
- Preferred
Sulfatidosis, Juvenile, Austin Type
- Narrower
| 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. |
| Preferred term | Multiple Sulfatase Deficiency Disease |
| Entry term(s) |
Mucosulfatidosis Multiple Sulfatase Deficiencies Multiple Sulfatase Deficiency Multiple Sulphatase Deficiency Disease |
| Concept UI |
M0487462 |
| Preferred term | Sulfatidosis, Juvenile, Austin Type |
| Entry term(s) |
Juvenile Sulfatidoses Juvenile Sulfatidosis Sulfatidoses, Juvenile Sulfatidosis Juvenile, Austin Type Sulfatidosis, Juvenile |
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