3-Hydroxydicarboxylic and 3-ketodicarboxylic aciduria in three patients: evidence for a new defect in fatty acid oxidation at the level of 3-ketoacyl-CoA thiolase.
Three patients presented with evidence of a fatty acid oxidation disorder. Analysis of urinary organic acids by gas chromatography/mass spectrometry demonstrated the presence of medium-chain (C6-C12) dicarboxylic, 3-hydroxydicarboxylic, and 3-ketodicarboxylic acids in all three urines. 3-Ketodicarboxylic aciduria is reported for the first time here, as are the mass spectra for 3-ketosuberic, 3-ketosebacic, and 3-ketododecanedioic acids and the oximated spectrum for 3-ketoadipic acid. The presence of 3-ketodicarboxylic acids suggests a defect at the level of a long-chain 3-ketoacyl-CoA thiolase, an enzyme for which a deficiency state has not previously been described. Our patients may represent the first cases of a long-chain thiolase defect.
Bennett
M J
MJ
Metabolic Disease Center, Baylor University Medical Center, Dallas, TX 75246.
Sherwood
W G
WG
D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency*; D003998:Dicarboxylic Acids / Q000652:urine*; D005227:Fatty Acids / Q000378:metabolism*; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology / Q000652:urine*; D013058:Mass Spectrometry; D010084:Oxidation-Reduction
D003998:Dicarboxylic Acids; D005227:Fatty Acids; D000102:Acetyl-CoA C-Acyltransferase