Dilated cardiomyopathy due to primary carnitine deficiency (Q95467): Difference between revisions
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Cardiomiopatia dilatada devida a deficiência primária de carnitina é a presença de cardiomiopatia dilatada em associação com um distúrbio de oxidação de ácidos graxos devido a um defeito no transporte dependente de carnitina de ácidos graxos de cadeia longa (deficiência do transportador de carnitina; mutação do gene SLC22A5). Esta condição autossômica recessiva responde bem ao tratamento com L-carnitina oral. | |||
| description / en | description / en | ||
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. | |||
Revision as of 11:15, 16 August 2026
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. |
