title: Familial carnitine transporter defect: A treatable cause of cardiomyopathy in children.
abstract: Carnitine transporter defect is characterized by severely reduced transport of carnitine into skeletal muscle, fibroblasts, and renal tubules. All children with dilated cardiomyopathy or hypoglycemia and coma should be evaluated for this transporter defect because it is readily amenable to therapy that results in prolonged prevention of cardiac failure. This article details the cases of 3 children who have carnitine transporter defect, 2 of whom had severe dilated cardiomyopathy. Plasma and skeletal muscle carnitine levels were extremely low and both children were treated with oral L-carnitine, resulting in resolution of severe cardiomyopathy and prevention of recurrence or cardiac enlargement for more than 5 years. The third child had hypoglycemia and coma as presenting findings of the transporter defect and had mild left ventricular hypertrophy but no cardiac failure. The prognosis for long-term survival in pediatric dilated cardiomyopathy is poor. Children with carnitine transporter defect can have a different outcome if their underlying condition is detected early and treated medically.
authors.affiliation: Department of Pediatrics, University of Minnesota, Minneapolis 55455, USA. pierp001@tc.umn.edu
authors.forename: M E
authors.initials: ME
authors.lastname: Pierpont
authors.forename: G N
authors.initials: GN
authors.lastname: Breningstall
authors.forename: C A
authors.initials: CA
authors.lastname: Stanley
authors.forename: A
authors.initials: A
authors.lastname: Singh
mesh_terms: D001692:Biological Transport; D015415:Biomarkers; D001706:Biopsy; D002311:Cardiomyopathy, Dilated / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D002331:Carnitine / Q000097:blood / Q000172:deficiency* / Q000627:therapeutic use; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004452:Echocardiography; D005260:Female; D005347:Fibroblasts / Q000378:metabolism / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D007684:Kidney Tubules / Q000378:metabolism / Q000648:ultrastructure; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000648:ultrastructure; D009206:Myocardium / Q000378:metabolism / Q000648:ultrastructure; D009679:Nuclear Family; D027701:Organic Cation Transport Proteins; D013902:Radiography, Thoracic; D000074058:Solute Carrier Family 22 Member 5
chemical_list: D015415:Biomarkers; D002352:Carrier Proteins; D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D002331:Carnitine