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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Family Member
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1
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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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| PDL at Freeze |
4.6 |
| Passage Frozen |
5 |
| |
| messenger RNA |
Peters et al (J Biol Chem 265:3374-3381 1990) reported that Northern blot analysis of RNA isolated from this multiple sulfatase deficiency patient using a 2.2-kilobase cDNA probe for human arylsulfatase B showed the same pattern of hybridization as that observed for RNA from normal controls. |
| |
| cerebroside-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.8 |
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| N-acetylgalactosamine-4-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.12 |
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| Remarks |
See GM03246 Lymphoid; microcephaly, delayed psychomotor develop; hypotonia, blind, deaf, and myoclonus; excess heparan sulfate in urine; deficient leukocyte arylsulfatase A, B and C; reduced arylsulfatase A, B and C activity in fibroblasts |
| 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 |
| |
| Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, et al, A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell81:15-25 1995 |
| PubMed ID: 7720070 |
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| Peters C, Schmidt B, Rommerskirch W, Rupp K, Zuhlsdorf M, Vingron M, Meyer HE, Pohlmann R, von Figura K, Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B. J Biol Chem265:3374-81 1990 |
| PubMed ID: 2303452 |
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| Rizzo WB, Dammann AL, Craft DA, Sjogren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity. J Clin Invest81:738-44 1988 |
| PubMed ID: 3343337 |
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| 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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| Eto Y, Tokoro T, Liebaers I, Vamos E, Biochemical characterization of neonatal multiple sulfatase deficient (MSD) disorder cultured skin fibroblasts. Biochem Biophys Res Commun106:429-34 1982 |
| PubMed ID: 6125152 |
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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 |
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| Phillipart, Multiple sulfatase deficiency presenting as Sanfilippo A disease. Pediatr Res9:316 (1975):317-21 1975 |
| PubMed ID: 6122572 |
| Passage Frozen |
5 |
| Split Ratio |
1:7 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
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