Description:
NEURAMINIDASE 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 Carbohydrate 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 |
11 |
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| exo-alpha-sialidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.18; 0-12% activity. |
| |
| Remarks |
Zero to 12% normal neuraminidase activity; normal B-glucuronidase and B-hexosaminidase levels; Hurler-like face, skeletal abnormalities, mental retardation, and cherry-red macular spot |
| Pshezhetsky AV, Richard C, Michaud L, Igdoura S, Wang S, Elsliger MA, Qu J, Leclerc D, Gravel R, Dallaire L, Potier M, Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. Nat Genet15:316-20 1997 |
| PubMed ID: 9054950 |
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| Pshezhetsky AV, Potier M, Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate. J Biol Chem271:28359-65 1996 |
| PubMed ID: 8910459 |
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| Little LE, Lau MM, Quon DV, Fowler AV, Neufeld EF, Proteolytic processing of the alpha-chain of the lysosomal enzyme, beta- hexosaminidase, in normal human fibroblasts. J Biol Chem263:4288-92 1988 |
| PubMed ID: 2964446 |
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| Honey NK, Miller AL, Shows TB, The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases. Am J Med Genet9:239-53 1981 |
| PubMed ID: 7282783 |
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| Cantz M, Gehler J, Spranger J, Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts. Biochem Biophys Res Commun74:732-8 1977 |
| PubMed ID: 836321 |
| dbSNP |
dbSNP ID: 22728 |
| Gene Cards |
NEU |
| NCBI GTR |
256550 NEURAMINIDASE DEFICIENCY |
| OMIM |
256550 NEURAMINIDASE DEFICIENCY |
| Omim Description |
CHERRY RED SPOT AND MYOCLONUS SYNDROME |
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GLYCOPROTEIN NEURAMINIDASE, DEFICIENCY OF |
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LIPOMUCOPOLYSACCHARIDOSIS, INCLUDED |
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ML I, INCLUDED |
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MUCOLIPIDOSIS I, INCLUDED |
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MYOCLONUS AND CHERRY RED SPOT SYNDROME |
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NEU, DEFICIENCY OF |
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NEU1, DEFICIENCY OFNEURAMINIDASE, INCLUDED; NEU, INCLUDED |
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NEUG, DEFICIENCY OF |
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NEURAMINIDASE 1, DEFICIENCY OF |
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NEURAMINIDASE DEFICIENCY |
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SIALIDASE DEFICIENCY |
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SIALIDOSES, TYPES I AND II |
| Passage Frozen |
11 |
| Split Ratio |
1:2 |
| 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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