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:

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 11/01/2013 - "Multiple sulfatase deficiency is a rare autosomal recessively inherited lysosomal storage disorder characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. " 10/01/2013 - "Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. " 08/01/2009 - "Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. " 09/01/1997 - "Furthermore, we pay attention to syndromes whose description and study are of current importance: cardiofaciocutaneous syndrome, neutral lipids storage disease with ichthyosis, multiple sulphatase deficiency disease and peroxisomal disorders. "
2.	Cardiofaciocutaneous syndromeIBA 09/01/1997 - "Furthermore, we pay attention to syndromes whose description and study are of current importance: cardiofaciocutaneous syndrome, neutral lipids storage disease with ichthyosis, multiple sulphatase deficiency disease and peroxisomal disorders. "
3.	SulfatasesIBA 07/01/2014 - "Multiple sulfatase deficiency is a rare autosomal recessive disorder in which affected individuals present a complex phenotype due to the impaired activity of all sulfatases. " 01/01/2014 - "In a severe lysosomal storage disorder, multiple sulfatase deficiency (MSD), global sulfatase activity is deficient due to mutations in the sulfatase-modifying factor 1 (SUMF1) gene, encoding the essential activator of all sulfatases. " 11/01/2013 - " decreased sulfatases activities confirmed the diagnosis of multiple sulfatase deficiency.On" 09/01/2013 - "Multiple sulfatase deficiency (MSD) is a rare inborn error of metabolism affecting posttranslational activation of sulfatases by the formylglycine generating enzyme (FGE). " 08/02/2010 - "Sulfatase modifying factor 1 (SUMF1) activates the Sulf1 and Sulf2 sulfatases that remodel the HSPGs, and is mutated in patients with multiple sulfatase deficiency. "
4.	GlycosaminoglycansIBA 02/01/2009 - "We demonstrated that inactivation of the sulfatase modifying factor 1 gene (Sumf1), a gene mutated in multiple sulfatase deficiency (MSD), causes glycosaminoglycans (GAGs) to accumulate in lysosomes, which in turn disrupts autophagy. " 05/01/1982 - "Extensive chemical analyses of acid mucopolysaccharides (AMPS) were carried out in the urine and tissue (liver and brain) from a Japanese patient and two European patients with multiple sulfatase deficiency (MSD). " 11/01/1979 - "Urinary acid mucopolysaccharides (AMPS) excretion was investigated in a Japanese case with Multiple Sulfatase Deficiency (MSD) (Mucosulfatidosis). " 11/01/1979 - "Urinary acid mucopolysaccharides in multiple sulfatase deficiency (mucosulfatidosis)." 11/01/2013 - "Multiple sulfatase deficiency is a rare autosomal recessively inherited lysosomal storage disorder characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. "
5.	Cerebroside-Sulfatase (Arylsulfatase A)IBA 06/01/2004 - "The case with multiple sulfatase deficiency had low levels of arylsulfatase A and B. " 08/15/1985 - "After endocytosis in control fibroblasts or those from multiple sulfatase deficiency, arylsulfatase A and B derived from the latter were subjected to enhanced degradation in both types of recipient cells. " 08/15/1985 - "Multiple sulfatase deficiency: degradation of arylsulfatase A and B after endocytosis in fibroblasts." 08/15/1985 - "The apparent rate of synthesis of arylsulfatase A and B varied from 30% to normal in both fibroblasts from group I and II multiple sulfatase deficiency. " 08/15/1985 - "Synthesis and stability of arylsulfatase A and B in fibroblasts from multiple sulfatase deficiency."
6.	ArylsulfatasesIBA 04/01/1982 - "In multiple sulfatase deficiency fibroblasts the rates of endocytosis and the stabilities of endocytosed arylsulfatases A isolated from human urine and bovine tests were equal to those in metachromatic leucodystrophy fibroblasts. " 02/01/1983 - "In heterozygotes for multiple sulfatase deficiency (MSD), several sulfatase activities including arylsulfatases A, B1, B2, and C, and cholesterol sulfatase were 40-50% of normals in cultured skin fibroblasts and 70-80% of normals in leukocytes. " 01/01/1984 - "Besides these disorders, deficiencies of arylsulfatases A, B, C, and other sulfatases have been shown in a distinct condition called "multiple sulfatase deficiency." All of these disorders are fatal and are characterized by marked demyelination and severe mental retardation. " 11/01/1998 - "The authors report a case of multiple sulfatase deficiency with only mild deficiencies of the arylsulfatases but with severe deficiencies of iduronate sulfatase and heparan sulfamidase. " 10/01/1980 - "Arylsulfatase A (aryl-sulfate sulfohydrolase, EC 3.1.6.1) activity is deficient in both diseases but in multiple sulfatase deficiency disorder, activities of arylsulfatases B and C and other sulfatases are also reported to be reduced. "
7.	Steryl-Sulfatase (Steroid Sulfatase)IBA 04/01/1988 - "Synthesis and stability of steroid sulfatase in fibroblasts from multiple sulfatase deficiency." 03/13/1986 - "Rapid degradation of steroid sulfatase in multiple sulfatase deficiency." 09/01/1997 - "The diagnosis of multiple sulfatase deficiency was demonstrated by measuring sulfatase activities in fresh leukocytes: there were large deficiencies of arylsulfatase A and B plus reduced arylsulfatase C. " 10/31/1991 - "In cells from patients with multiple sulfatase deficiency, the activities of lysosomal sulfatases as well as steroid sulfatase were deficient. " 04/01/1988 - "Antibodies raised against steroid sulfatase purified from human placenta were used to follow the biosynthesis and stability of this enzyme in multiple sulfatase-deficiency fibroblasts. "
8.	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 01/01/2010 - "Diagnosis generally requires evidence of clinical phenotype, arylsulfatase B enzyme activity <10% of the lower limit of normal in cultured fibroblasts or isolated leukocytes, and demonstration of a normal activity of a different sulfatase enzyme (to exclude multiple sulfatase deficiency). " 08/15/1985 - "Whereas instability of arylsulfatase A derived from different cell lines from multiple sulfatase deficiency was comparable, a marked heterogeneity was observed for the instability of the 47000-Mr polypeptide of arylsulfatase B. " 08/01/1988 - "Deficient activities of cerebroside-sulfatase, N-Acetylgalactosamine-4-sulfatase and iduronide 2-sulfatase in the lymphocytes of a patient suspected of metachromatic leukodystrophy, established the diagnosis of multiple sulfatase deficiency (MSD). " 10/31/1991 - "The enzyme activity of arylsulfatase A and arylsulfatase B was studied in Epstein-Barr virus-transformed lymphoid cell lines established from control individuals and patients affected with metachromatic leukodystrophy, mucopolysaccharidosis type VI (or Maroteaux-Lamy syndrome) and multiple sulfatase deficiency. "
9.	Cysteine (L-Cysteine)FDA Link 10/28/1997 - "In multiple sulfatase deficiency, an inherited lysosomal storage disorder, catalytically inactive sulfatases are synthesized which retain the cysteine residue, indicating that the Calpha-formylglycine residue is required for sulfatase activity. " 11/01/2005 - "Several human inherited diseases are caused by the deficiency of individual sulfatases, while in patients with multiple sulfatase deficiency mutations in the Sulfatase Modifying Factor 1 (SUMF1) gene cause a defect in the post-translational modification of a cysteine residue into C(alpha)-formylglycine (FGly) at the active site of all sulfatases. " 05/16/2003 - "The posttranslational conversion of cysteine to C(alpha)-formylglycine in the catalytic site of mammalian sulfatases is deficient in the rare but devastating disorder multiple sulfatase deficiency (MSD). " 02/15/1997 - "In sufferers of multiple sulfatase deficiency, all sulfatases are inactive because an essential post-translational modification of a specific active-site cysteine residue to oxo-alanine does not occur. "
10.	C(alpha)-formylglycineIBA 05/16/2003 - "Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme." 10/16/2003 - "Recently, the human C(alpha)-formylglycine (FGly)-generating enzyme (FGE), whose deficiency causes the autosomal-recessively transmitted lysosomal storage disease multiple sulfatase deficiency (MSD), has been identified. " 11/01/2005 - "Several human inherited diseases are caused by the deficiency of individual sulfatases, while in patients with multiple sulfatase deficiency mutations in the Sulfatase Modifying Factor 1 (SUMF1) gene cause a defect in the post-translational modification of a cysteine residue into C(alpha)-formylglycine (FGly) at the active site of all sulfatases. " 05/16/2003 - "The posttranslational conversion of cysteine to C(alpha)-formylglycine in the catalytic site of mammalian sulfatases is deficient in the rare but devastating disorder multiple sulfatase deficiency (MSD). "