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 |
|
Cell Type
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Fibroblast
|
|
Transformant
|
Untransformed
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
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 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| 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 |
| Passage Frozen |
1 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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