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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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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| exo-alpha-sialidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.18 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Cherry red spot in retina; muscular incoordination; dysarthria; grand mal seizure at age 12; normal intelligence; deficient fibroblast neuraminidase activity; passage 4 at CIMR |
| 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 |
| Split Ratio |
1:3 |
| 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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