title: Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia.
abstract: Carnitine transporter defect is an autosomal recessive disorder caused by mutations in the SLC22A5 gene that encodes the high-affinity carnitine transporter OCTN2. Affected patients can present with predominant metabolic or cardiac manifestations. Early recognition of this disorder in a context of life-threatening cardiac failure and treatment with carnitine can be lifesaving in this inborn error of fatty acid oxidation. Here we describe a boy with a severe cardiomyopathy and severe anemia who improved with carnitine therapy. Physiopathology of anemia, a probably less recognized symptom of carnitine deficiency, is also discussed.
authors.affiliation: Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital La Timone Enfants, Marseille, France. aline.cano@ap-hm.fr
authors.forename: Aline
authors.initials: A
authors.lastname: Cano
authors.forename: Caroline
authors.initials: C
authors.lastname: Ovaert
authors.forename: Christine
authors.initials: C
authors.lastname: Vianey-Saban
authors.forename: Brigitte
authors.initials: B
authors.lastname: Chabrol
mesh_terms: D018798:Anemia, Iron-Deficiency / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology; D009202:Cardiomyopathies / Q000188:drug therapy / Q000209:etiology*; D002331:Carnitine / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000188:drug therapy; D027701:Organic Cation Transport Proteins / Q000172:deficiency*; D000074058:Solute Carrier Family 22 Member 5; D014803:Vitamin B Complex / Q000627:therapeutic use
chemical_list: D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D014803:Vitamin B Complex; D002331:Carnitine