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 |
6 |
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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; 22% activity. |
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| Remarks |
22% of normal sialidase activity; cherry-red spots; myoclonus without dementia; similarly affected brother died at age 33 |
| 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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| Andria G, Sly WS, Intermediate golgi alpha-D-mannosidosis and mucolipidosis II and III. Pediatr Res15:70-3 1981 |
| PubMed ID: 7208171 |
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| Thomas GH, Tipton RE, Ch'ien LT, Reynolds LW, Miller CS, Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia. Clin Genet13:369-79 1978 |
| PubMed ID: 657577 |
| dbSNP |
dbSNP ID: 13730 |
| 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 |
6 |
| Split Ratio |
1:4 |
| 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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