3-Hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria.
1. A baby with severe metabolic acidosis was found to excrete abnormal amounts of 3-methylcrotonic acid, 3-methylglutaconic acid and 3-hydroxy-3-methylglutaric acid in urine. 2. Several other abnormal constitutents appear to be products of side-reactions and include 3-hydroxy-3-methylbutyric acid and 3-methylglutaric acid. 3. The profile of acids in urine indicates a blockage in the sixth step of leucine catabolism, the cleavage of 3-hydroxy-3-methylglutaryl-CoA to acetoacetic acid and acetyl-CoA.
D000138:Acidosis / Q000652:urine*; D000592:Amino Acid Metabolism, Inborn Errors / Q000652:urine*; D002849:Chromatography, Gas; D005977:Glutarates / Q000652:urine*; D006801:Humans; D006885:Hydroxybutyrates / Q000652:urine; D007223:Infant; D007930:Leucine / Q000378:metabolism; D013058:Mass Spectrometry
D005977:Glutarates; D006885:Hydroxybutyrates; D007930:Leucine