Urinary excretion of 2-methyl-2,3-butanediol and 2,3-pentanediol in patients with disorders of propionate and methylmalonate metabolism.
Urine samples from patients with propionic acidemia and from a patient with methylmalonic acidemia contained unknown non-acidic metabolites by gas chromatography/mass spectrometry after ethyl acetate extraction. It could be demonstrated by mass spectrometric studies and by synthesis of reference compounds that the major metabolite was 2-methyl-2,3-butanediol, while smaller amounts of 2,3-pentanediol were also present. These diols were present in abnormal amounts in these patients during attacks of metabolic decompensation.
D000138:Acidosis / Q000378:metabolism*; D002072:Butylene Glycols / Q000652:urine*; D002849:Chromatography, Gas; D006018:Glycols / Q000652:urine*; D006801:Humans; D008314:Malonates / Q000378:metabolism*; D011422:Propionates / Q000378:metabolism*
D002072:Butylene Glycols; D006018:Glycols; D008314:Malonates; D011422:Propionates; C053671:2,3-pentanediol; C053670:2-methyl-2,3-butanediol; C005230:methyl malonate