Dilated cardiomyopathy due to primary carnitine deficiency (Q95467)
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Dilated cardiomyopathy due to carnitine deficiency is the presence of dilated cardiomyopathy in association with a fatty acid oxidation disorder due to a defect in the carnitine-dependent transport of long chain fatty acids (carnitine transporter deficiency; SLC22A5 gene mutation). This autosomal recessive condition responds well to treatment with oral L-carnitine.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_932964763 |
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| English | Dilated cardiomyopathy due to primary carnitine deficiency |
Dilated cardiomyopathy due to carnitine deficiency is the presence of dilated cardiomyopathy in association with a fatty acid oxidation disorder due to a defect in the carnitine-dependent transport of long chain fatty acids (carnitine transporter deficiency; SLC22A5 gene mutation). This autosomal recessive condition responds well to treatment with oral L-carnitine. |
