Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia.
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.
Cano
Aline
A
Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital La Timone Enfants, Marseille, France. aline.cano@ap-hm.fr
Ovaert
Caroline
C
Vianey-Saban
Christine
C
Chabrol
Brigitte
B
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
D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D014803:Vitamin B Complex; D002331:Carnitine