Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias.
In urine of patients with propionyl-CoA carboxylase deficiency or with methylmalonic acidemia, carnitine esters of 2-methyl-branched fatty acids of all chain lengths between 4 and 9 atoms of carbon were identified during the acute phase of the diseases. The chemical structure of these compounds was obtained by gas chromatography-mass spectrometry analysis of their fatty acid moieties in their free and picolinyl ester forms. We suggest mechanisms for the biosynthesis of these branched fatty acids, and their accumulation in urine during episodes of caloric imbalance.
Libert
R
R
Laboratoire des Maladies Métaboliques, Département de Biologie Clinique, Cliniques Universitaires St Luc, 10 Avenue Hippocrate, B-1200, Brussels, Belgium. rozenberg@cico.ucl.ac.be
Van Hoof
F
F
Thillaye
M
M
Vincent
M F
MF
Nassogne
M C
MC
de Hoffmann
E
E
Schanck
A
A
D000328:Adult; D002262:Carboxy-Lyases / Q000172:deficiency; D002331:Carnitine / Q000031:analogs & derivatives* / Q000737:chemistry / Q000652:urine; D016022:Case-Control Studies; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood / Q000652:urine; D008297:Male; D008764:Methylmalonic Acid / Q000097:blood*; D043586:Methylmalonyl-CoA Decarboxylase; D011422:Propionates / Q000097:blood*; D016339:Spectrometry, Mass, Fast Atom Bombardment
D011422:Propionates; C116917:acylcarnitine; C003223:propionylcarnitine; D008764:Methylmalonic Acid; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase; C029658:propionic acid; D002331:Carnitine