NA07490
DNA from Fibroblast
Description:
ISOVALERICACIDEMIA; IVA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
| Quantity |
10 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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Black/African 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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| Passage Frozen |
9 |
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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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| Remarks |
Intermittent vomiting & lethargy followed by transient alopecia & pancytopenia; no foul odor; urine organic acid analysis showed excessive isovalerylglycine; developmental delay; physical weakness; negative family history |
| Roe CR, Millington DS, Maltby DA, Kahler SG, Bohan TP, L-carnitine therapy in isovaleric acidemia. J Clin Invest74:2290-5 1984 |
| PubMed ID: 6549017 |
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