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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Alanine / urine*
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Aldehyde Oxidoreductases / deficiency
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Amino Acid Metabolism, Inborn Errors / genetics
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Amino Acid Metabolism, Inborn Errors / urine*
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Aminoisobutyric Acids / urine*
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Child, Preschool
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Humans
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Hydroxybutyrates / urine*
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Lactates / urine*
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Lactic Acid* / analogs & derivatives*
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Male
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Malonate-Semialdehyde Dehydrogenase (Acetylating)
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Malonates / metabolism*
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Malondialdehyde / analogs & derivatives
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Malondialdehyde / metabolism*
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Methylmalonate-Semialdehyde Dehydrogenase (Acylating)
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Valerates / urine*
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beta-Alanine / urine*
Substances
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Aminoisobutyric Acids
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Hydroxybutyrates
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Lactates
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Malonates
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Valerates
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beta-Alanine
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Lactic Acid
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2-ethylhydracrylic acid
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Malondialdehyde
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malonic semialdehyde
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hydracrylic acid
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Aldehyde Oxidoreductases
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ethylmalonate-semialdehyde dehydrogenase
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Malonate-Semialdehyde Dehydrogenase (Acetylating)
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Methylmalonate-Semialdehyde Dehydrogenase (Acylating)
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3-hydroxyisobutyric acid
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Alanine
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3-aminoisobutyric acid