Description:
ASPARTYLGLUCOSAMINURIA
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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 |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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|
Tissue Type
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Blood
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|
Transformant
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Epstein-Barr Virus
|
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Sample Source
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DNA from LCL
|
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Race
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White
|
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Ethnicity
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FINNISH
|
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Relation to Proband
|
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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.1.26; 3% activity. |
| |
| Remarks |
Finnish; mental retardation; some connective tissue changes; coarse facial features; 3% of normal lymphoblast Naspartyl-beta-glucosaminidase activity |
| Driscoll CT, Darlington GJ, Maraia RJ, The conserved 7SK snRNA gene localizes to human chromosome 6 by homolog
exclusion probing of somatic cell hybrid RNA. Nucleic Acids Res22(5):722-5 1994 |
| PubMed ID: 8139910 |
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