Beta-methylcrotonic aciduria associated with lactic acidosis.
A patient is described in whom lactic acidosis of very severe degree was found to coincide with the presence of beta-methylcrotonic acid and rho-hydroxyphenyllactic acid in urine in large amounts, while beta-hydroxyisovaleric acid was found to be a relatively minor excretion product. Beta-methylcrotonic acid is demonstrated, for the first time, to be present in blood and CSF. These findings are discussed in relation to the patients previously reported to have beta-methylcrotonylglycinuria and raise the possibility that our patient's organic aciduria may be secondary to acquired disease rather than to an inborn error of metabolism.
D000596:Amino Acids / Q000097:blood / Q000652:urine; D002087:Butyrates / Q000652:urine*; D002264:Carboxylic Acids / Q000097:blood / Q000134:cerebrospinal fluid; D003437:Crotonates / Q000652:urine*; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine; D007231:Infant, Newborn; D007773:Lactates / Q000652:urine*; D008659:Metabolic Diseases / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine*; D010636:Phenols / Q000652:urine; D014631:Valerates / Q000652:urine
D000596:Amino Acids; D002087:Butyrates; D002264:Carboxylic Acids; D003437:Crotonates; D006880:Hydroxy Acids; D007773:Lactates; D010636:Phenols; D014631:Valerates; C004961:beta-hydroxyisovaleric acid; C011546:senecioic acid