Description:
MULTIPLE SULFATASE DEFICIENCY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
6 |
| |
| cerebroside-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.8; 42% activity. |
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| cerebroside-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.8; 5% activity. |
| |
| cerebroside-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.8; 5% activity. |
| |
| cerebroside-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.8; 5% activity. |
| |
| Remarks |
Clinically affected; severely mentally retarded; dysostosis multiplex; ichthyotic rash; normal levels of arylsulfatase A present in 42% of tested fibroblasts and less than 5% in urine, leukocytes, and serum; elevated urinary sulfatides and mucopolysaccharides.
|
| Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A, The multiple sulfatase deficiency gene encodes an essential and limiting factor
for the activity of sulfatases. Cell113(4):445-56 2003 |
| PubMed ID: 12757706 |
| |
| Horwitz AL, Warshawsky L, King J, Burns G, Rapid degradation of steroid sulfatase in multiple sulfatase deficiency. Biochem Biophys Res Commun135:389-96 1986 |
| PubMed ID: 3083810 |
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| Bach G, Neufeld EF, Synthesis and maturation of cross-reactive glycoprotein in fibroblasts deficient in arylsulfatase A activity. Biochem Biophys Res Commun112:198-205 1983 |
| PubMed ID: 6132606 |
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| Waheed A, Hasilik A, von Figura K, Enhanced breakdown of arylsulfatase A in multiple sulfatase deficiency. Eur J Biochem123:317-21 1982 |
| PubMed ID: 6122572 |
| |
| Burk, Multiple sulfatase deficiency (MSD): Clinical and biochemical studies in two patients. Am J Hum Genet33:72A (1981):317-21 1981 |
| PubMed ID: 6122572 |
| Passage Frozen |
6 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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