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.
Colin
A A
AA
Department of Paediatrics, Haifa City Medical Centre (Rothschild), Israel.
Jaffe
M
M
Shapira
Y
Y
Ne'eman
Z
Z
Gutman
A
A
Korman
S
S
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