Identification of methyl-branched chain dicarboxylic acids in amniotic fluid and urine in propionic and methylmalonic acidemia.

3-Methyladipic, 4-methylpimelic, 4-methylsuberic, pimelic, and azeleic acids were identified by gas chromatography-mass spectrometry in the amniotic fluid of fetuses with propionic acidemia. These compounds were virtually undetectable in normal amniotic fluid. Concentrations much higher than those of the amniotic fluid were found in the urine of neonatal infants with propionic acidemia and methylmalonic acidemia. It appears that the accumulation of these compounds is a consequence of the accumulation of propionyl-CoA. Evidence was obtained for the presence of other methyl-branched chain dicarboxylic acids. 4-Methylpimelic acid and 4-methylsuberic acid have not previously been identified in human physiological fluids.