NA00525
DNA from Fibroblast
Description:
ARGININOSUCCINIC ACIDURIA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Disorders of the Urea Cycle |
| Class |
Disorders of Amino Acid Metabolism |
| Quantity |
50 µg |
| 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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Family Member
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1
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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 |
8 |
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| argininosuccinate lyase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 4.3.2.1 |
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| Remarks |
Argininosuccinase deficiency; similarly affected brother |
| Cathelineau L, Dinh DP, Briand P, Kamoun P, Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts. Hum Genet57:282-4 1981 |
| PubMed ID: 7250970 |
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| Shih, Argininosuccinase deficiency in fibroblasts cultured from patients with argininosuccinic aciduria. Biochem Genet3:81 (1969):282-4 1969 |
| PubMed ID: 7250970 |
| |
| Moser HW, Efron ML, Brown H, Diamond R, Neumann CG, Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia. Am J Med42:9-26 1967 |
| PubMed ID: 6016480 |
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