NA10337
DNA from Fibroblast
Description:
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid 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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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 |
1 |
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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 |
Cardiomyopathy, muscle weakness, hepatomegaly and cardiac arrhythmia; onset at 3 days of age; similarly affected brother expired at 4 days of age; patient is unable to increase plasma ketones in response to fasting hypoglycemia |
| Stanley CA, Hale DE, Berry GT, Deleeuw S, Boxer J, Bonnefont JP, Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N Engl J Med327:19-23 1992 |
| PubMed ID: 1598097 |
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