[Primary cardiomyopathy in children with lipid infiltration of the myocardium and skeletal muscles and demonstration of a palmityl-carnitine transferase deficiency. Apropos of 4 cases].
The authors report four cases of metabolic cardiomyopathy with lipid infiltration diagnosed by skeletal muscle and myocardial biopsy in children with no clinical signs of muscular dystrophy. Normal or increased serum and urinary carnitine levels excluded a primary carnitine deficiency. A deficiency in muscular-palmityl-carnitine-transferase was demonstrated. This pathogenic mechanism may be an indication for treatment with carnitine, but the results are less spectacular than in primary carnitine deficiency states.
D000217:Acyltransferases / Q000172:deficiency*; D001706:Biopsy; D009202:Cardiomyopathies / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D050356:Lipid Metabolism; D008064:Lipidoses / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D009132:Muscles / Q000201:enzymology / Q000378:metabolism / Q000473:pathology*; D009135:Muscular Diseases / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D009206:Myocardium / Q000201:enzymology / Q000378:metabolism / Q000473:pathology*
D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase
Myocardiopathie primitive de l'enfant avec surcharge lipidique des fibres myocardiques et musculaires et mise en évidence d'un déficit en enzyme palmityl-carnitine-transférase. A propos de 4 observations.