Description:
GLYCOGEN STORAGE DISEASE I
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable 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
|
|
Race
|
White
|
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Relation to Proband
|
proband
|
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Confirmation
|
Biochemical characterization - other
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|
Species
|
Homo sapiens
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|
Common Name
|
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 |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
| |
| glucose-6-phosphatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.3.9; <10% activity. |
| |
| Remarks |
Type 1a; lactic acidosis; hyperlipidemia; hypoglycemia; hepatomegaly; liver biopsy showed <10% of control glucose6-phosphatase activity |
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