Dilated cardiomyopathy due to primary carnitine deficiency (Q95467): Difference between revisions

@@ description / pt-br / description / pt-br @@
+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.
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Timezone +00:00
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@@ Property / Collection date: 15 August 2026 / rank @@
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Latest 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
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.