NA00572
DNA from Fibroblast
Description:
GLYCOGEN STORAGE DISEASE IV
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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 |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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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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| Passage Frozen |
9 |
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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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| 1,4-alpha-glucan branching enzyme |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.4.1.18 |
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| Remarks |
Deficient branching enzyme activity and normal debranching enzyme activity in fibroblasts; normal A-glucosidase activity; fibroblasts exhibit elevated glycogen content |
| Bao Y, Kishnani P, Wu JY, Chen YT, Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest97:941-8 1996 |
| PubMed ID: 8613547 |
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| Guerra AS, van Diggelen OP, Carneiro F, Tsou RM, Simoes S, Santos NT, A juvenile variant of glycogenosis IV (Andersen disease). Eur J Pediatr145:179-81 1986 |
| PubMed ID: 3464425 |
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| Brown DH, Brown BI, Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with type IV glycogen storage disease. Biochem Biophys Res Commun111:636-43 1983 |
| PubMed ID: 6220706 |
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