Description:
GLYCOGEN STORAGE DISEASE I
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Alternate IDs |
GM17069 [GLYCOGEN STORAGE DISEASE I] |
| 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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MEXICAN-AMERICAN
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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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| 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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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| glucose-6-phosphatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.3.9; 0% activity. |
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| Remarks |
Mexican/American; no detectable glucose6-phosphatase activity in liver biopsy; at age 7 the disease is managed with diet & cornstarch supplementation; poor growth; history of hypoglycemic seizures; on phenobarbital |
| Jurevic RJ, Bai M, Chadwick RB, White TC, Dale BA, Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. J Clin Microbiol41(1):90-6 2003 |
| PubMed ID: 12517831 |
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| Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY, Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. Science262:580-3 1993 |
| PubMed ID: 8211187 |
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