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
|
|
Tissue Type
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Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
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Ethnicity
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FINNISH
|
|
Relation to Proband
|
proband
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|
Confirmation
|
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; 2% activity. |
| |
| Remarks |
Finnish; mental retardation and some connective tissue changes; 2% of normal lymphoblast N-aspartyl-beta-glucosaminidase activity |
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