HOMEPRODUCTSSERVICESCOMPANYCONTACTFAQResearchDictionaryPharmaMobileSign Up FREE or Login

Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)

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.
Also Known As:
Mucosulfatidosis; Multiple Sulfatase Deficiency; Sulfatidosis, Juvenile, Austin Type; Multiple Sulphatase Deficiency Disease; Multiple Sulfatase Deficiencies
Networked: 63 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1. Ichthyosis (Xeroderma)
2. Peroxisomal Disorders (Peroxisomal Disorder)
3. Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)
4. Lysosomal Storage Diseases (Lysosomal Storage Disease)
5. Metachromatic Leukodystrophy (Sulfatide Lipidosis)

Experts

1. Ballabio, Andrea: 12 articles (07/2014 - 05/2003)
2. Pepe, Stefano: 8 articles (07/2014 - 05/2003)
3. Dierks, Thomas: 8 articles (09/2013 - 05/2003)
4. Cosma, Maria Pia: 7 articles (08/2010 - 05/2003)
5. Schmidt, Bernhard: 6 articles (09/2013 - 05/2003)
6. Settembre, Carmine: 6 articles (12/2012 - 06/2004)
7. von Figura, Kurt: 5 articles (04/2009 - 05/2003)
8. Annunziata, Ida: 4 articles (09/2007 - 05/2003)
9. Biffi, Alessandra: 3 articles (08/2010 - 04/2007)
10. Visigalli, Ilaria: 3 articles (08/2010 - 04/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Multiple Sulfatase Deficiency Disease:
1. LipidsIBA
2. Cardiofaciocutaneous syndromeIBA
3. SulfatasesIBA
4. GlycosaminoglycansIBA
5. Cerebroside-Sulfatase (Arylsulfatase A)IBA
6. ArylsulfatasesIBA
7. Steryl-Sulfatase (Steroid Sulfatase)IBA
8. N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA
9. Cysteine (L-Cysteine)FDA Link
10. C(alpha)-formylglycineIBA