Excessive excretion of β‐alanine and of 3‐hydroxypropionic,R‐ andS‐3‐aminoisobutyric,R‐ andS‐3‐hydroxyisobutyric andS‐2‐(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes

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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.