title: Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes.
abstract: A new metabolic disorder characterised by the excessive excretion of beta-alanine, 3-hydroxypropionic acid, R- and S-3-amino- and 3-hydroxyisobutyric acids and S-2-(hydroxymethyl)butyric acid is probably due to deficient activities of malonic, methylmalonic and ethylmalonic semialdehyde dehydrogenases. These dehydrogenation reactions could be mediated by one enzyme, or by enzymes with a common subunit, and both R- and S-methylmalonic semialdehydes seem to be equally affected. The patient is now aged 4 years and has developed normally. He has a persistent gross hypermethioninaemia which is probably unrelated to the other biochemical abnormalities.
mesh_terms: D000409:Alanine / Q000652:urine*; D000445:Aldehyde Oxidoreductases / Q000172:deficiency; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000652:urine*; D000621:Aminoisobutyric Acids / Q000652:urine*; D002675:Child, Preschool; D006801:Humans; D006885:Hydroxybutyrates / Q000652:urine*; D007773:Lactates / Q000652:urine*; D019344:Lactic Acid / Q000031:analogs & derivatives*; D008297:Male; D050605:Malonate-Semialdehyde Dehydrogenase (Acetylating); D008314:Malonates / Q000378:metabolism*; D008315:Malondialdehyde / Q000031:analogs & derivatives / Q000378:metabolism*; D050646:Methylmalonate-Semialdehyde Dehydrogenase (Acylating); D014631:Valerates / Q000652:urine*; D015091:beta-Alanine / Q000652:urine*
chemical_list: D000621:Aminoisobutyric Acids; D006885:Hydroxybutyrates; D007773:Lactates; D008314:Malonates; D014631:Valerates; D015091:beta-Alanine; D019344:Lactic Acid; C007674:2-ethylhydracrylic acid; D008315:Malondialdehyde; C039786:malonic semialdehyde; C031601:hydracrylic acid; D000445:Aldehyde Oxidoreductases; C050832:ethylmalonate-semialdehyde dehydrogenase; D050605:Malonate-Semialdehyde Dehydrogenase (Acetylating); D050646:Methylmalonate-Semialdehyde Dehydrogenase (Acylating); C020757:3-hydroxyisobutyric acid; D000409:Alanine; C033435:3-aminoisobutyric acid