Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: an inborn error of beta-alanine, L-valine and L-alloisoleucine metabolism?

J Inherit Metab Dis. 1993;16(3):563-7. doi: 10.1007/BF00711682.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alanine / metabolism
  • Aldehyde Oxidoreductases / deficiency*
  • Amino Acid Metabolism, Inborn Errors / enzymology
  • Amino Acid Metabolism, Inborn Errors / metabolism*
  • Child
  • Fibroblasts / enzymology
  • Fibroblasts / metabolism
  • Humans
  • Hydroxybutyrate Dehydrogenase / deficiency
  • Isoleucine / metabolism
  • Male
  • Malonate-Semialdehyde Dehydrogenase (Acetylating)
  • Methylmalonate-Semialdehyde Dehydrogenase (Acylating)
  • Valine / metabolism

Substances

  • Isoleucine
  • Hydroxybutyrate Dehydrogenase
  • Aldehyde Oxidoreductases
  • ethylmalonate-semialdehyde dehydrogenase
  • Malonate-Semialdehyde Dehydrogenase (Acetylating)
  • Methylmalonate-Semialdehyde Dehydrogenase (Acylating)
  • Valine
  • Alanine