ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders.
Acylcarnitines in urine from 45 patients with organic acidemias and fatty acid oxidation disorders were evaluated using ESI-MS/MS. The urinary acylcarnitine profiles in organic acidemias, SCAD deficiency and MCAD deficiency were compatible with blood acylcarnitine profiles, and abnormalities in urinary acylcarnitine profiles in these conditions were enhanced following carnitine loading. Urinary acylcarnitine profiles were not helpful for characterization of long-chain fatty acid disorders, but a combination of urine and blood acylcarnitine analysis was useful for differential diagnosis of carnitine deficit.
Kobayashi
Hironori
H
Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan. bakki@med.shimane-u.ac.jp
Hasegawa
Yuki
Y
Endo
Mitsuru
M
Purevsuren
Jamiyan
J
Yamaguchi
Seiji
S
D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood / Q000652:urine; D005227:Fatty Acids / Q000737:chemistry / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008764:Methylmalonic Acid / Q000378:metabolism; D010084:Oxidation-Reduction; D011422:Propionates / Q000378:metabolism; D021241:Spectrometry, Mass, Electrospray Ionization / Q000379:methods*; D053719:Tandem Mass Spectrometry
D005227:Fatty Acids; D011422:Propionates; C116917:acylcarnitine; D008764:Methylmalonic Acid; C029658:propionic acid; D002331:Carnitine