[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]

J Normand; H Carrier; G Berthillier; A Bozio; D Jocteur-Monrozier; M André; B Joffre

[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]

Arch Mal Coeur Vaiss. 1979 May;72(5):529-35.

[Article in French]

Authors

J Normand, H Carrier, G Berthillier, A Bozio, D Jocteur-Monrozier, M André, B Joffre

PMID: 115406

Abstract

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.

Publication types

English Abstract

MeSH terms

Acyltransferases / deficiency*
Biopsy
Cardiomyopathies / diagnosis*
Cardiomyopathies / enzymology
Cardiomyopathies / pathology
Carnitine O-Palmitoyltransferase / deficiency*
Child
Child, Preschool
Humans
Infant
Lipid Metabolism*
Lipidoses / diagnosis*
Lipidoses / metabolism
Lipidoses / pathology
Muscles / enzymology
Muscles / metabolism
Muscles / pathology*
Muscular Diseases / diagnosis*
Muscular Diseases / metabolism
Muscular Diseases / pathology
Myocardium / enzymology
Myocardium / metabolism
Myocardium / pathology*

Substances

Acyltransferases
Carnitine O-Palmitoyltransferase