Abstract
OF 3 siblings one boy died unexpectedly at 18 mo, one girl is healthy and one girl was admitted at 3 yrs 9 mo with heart Failure and signs oF dilated cardiomyopathy. Analyses oF blood collected For PKU-screening showed low carnitine cone in the patient and her brother, but normal in her sister. Endocardial Fibroelastosis and cardiomyopathy was Found at autopsy of the dead boy, and similar changes in endomyocardial biopsies oF the patient. Carnitine cone in her plasma was 1.2 μmol/l, in skeletal muscle 0.01 μmol/g non-collagen protein (NCP) and in heart muscle 0.05 μmol/g NCP1 Skeletal muscle showed lipid accumulation in type 1 fibres and marked atrophy oF type 2 Fibres. The renal clearance of carnitine was very high (72 ml/min/1.73 sqm BSA). When labeled carnitine was given i.v., 5% was retained aFter 10 days (in parents 85-90%). Skin Fibroblasts grown in a medium containing carnitine, had a carnitine cone <5% oF controls. Treatment with oral L-carnitine resulted in rapid clinical improvment, normalization oF echocardiography variables and of the myocardial and skeletal muscle biopsies. Carnitine cone remained low in heart and muscle.
In conclusion this family expresses a hereditary deFect in carnitine transport over different cell membranes.
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Sabel, KG., Eriksson, B., Hoyer, S. et al. 31 HEREDITARY DEFECT IN MEMBRANE TRANSPORT OF CARNITINE. Pediatr Res 24, 266 (1988). https://doi.org/10.1203/00006450-198808000-00057
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DOI: https://doi.org/10.1203/00006450-198808000-00057
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