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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; Juvenile Sulfatidosis; Multiple Sulphatase Deficiency Disease; Sulfatidosis Juvenile, Austin Type; Juvenile Sulfatidoses; Multiple Sulfatase Deficiencies; Sulfatidoses, Juvenile; Sulfatidosis, Juvenile
Networked: 114 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1. Mucopolysaccharidoses
2. Ichthyosis (Xeroderma)
3. Peroxisomal Disorders (Peroxisomal Disorder)
4. Cardiofaciocutaneous syndrome
5. Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)

Experts

1. Ballabio, Andrea: 18 articles (01/2018 - 05/2003)
2. Dierks, Thomas: 15 articles (09/2019 - 05/2003)
3. Schlotawa, Lars: 10 articles (11/2020 - 01/2008)
4. Schmidt, Bernhard: 9 articles (01/2018 - 05/2003)
5. Cosma, Maria Pia: 9 articles (08/2010 - 05/2003)
6. Pepe, Stefano: 8 articles (12/2014 - 05/2003)
7. Settembre, Carmine: 8 articles (12/2012 - 06/2004)
8. von Figura, Kurt: 7 articles (04/2009 - 05/2003)
9. Radhakrishnan, Karthikeyan: 6 articles (05/2020 - 04/2009)
10. Gärtner, Jutta: 5 articles (11/2020 - 01/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Multiple Sulfatase Deficiency Disease:
1. EnzymesIBA
2. Sulfates (Sulfates, Inorganic)IBA
3. Sulfoglycosphingolipids (Sulfatides)IBA
4. LipidsIBA
5. SulfatasesIBA
6. N-formylglycineIBA
7. GlycosaminoglycansIBA
8. Cerebroside-Sulfatase (Arylsulfatase A)IBA
9. ArylsulfatasesIBA
10. Lysergic Acid Diethylamide (LSD)IBA

Therapies and Procedures

1. Therapeutics
2. Investigational Therapies (Experimental Therapy)