Catalog

Dilated cardiomyopathy due to primary carnitine deficiency

No MMS code

Link to WHO Definition

Dilated cardiomyopathy due to primary carnitine deficiency – http://id.who.int/icd/entity/932964763

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.