Muscle carnitine deficiency presenting as familial fatal cardiomyopathy.
Three siblings presented with fatal cardiomyopathy confirmed by electron microscopy, and normal serum but low muscle carnitine concentrations. A fourth had similar signs but remained asymptomatic. He was treated with carnitine orally which increased the concentration in muscle, though it remained below normal. Electron microscopic features were unchanged.
Department of Paediatrics, Haifa City Medical Centre (Rothschild), Israel.
A A
AA
Colin
M
M
Jaffe
Y
Y
Shapira
Z
Z
Ne'eman
A
A
Gutman
S
S
Korman
D009202:Cardiomyopathies / Q000235:genetics* / Q000473:pathology; D002331:Carnitine / Q000172:deficiency*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D009206:Myocardium / Q000378:metabolism* / Q000648:ultrastructure
D002331:Carnitine