MCAD deficiency. Acylcarnitines (AC) by tandem mass spectrometry (MS-MS) are useful to monitor dietary treatment.
Abdenur
J E
JE
Universidad de Buenos Aires, Argentina.
Chamoles
N A
NA
Specola
N
N
Schenone
A B
AB
Jorge
L
L
Guinle
A
A
Bernard
C I
CI
Levandowskiy
V
V
Lavorgna
S
S
D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000178:diet therapy*; D013058:Mass Spectrometry / Q000379:methods; D008991:Monitoring, Physiologic / Q000379:methods
C116917:acylcarnitine; D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine