title: Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: an inborn error of beta-alanine, L-valine and L-alloisoleucine metabolism?
authors.affiliation: Metabolic Disease Center, Baylor Research Institute, Dallas, Texas, USA.
authors.forename: K M
authors.initials: KM
authors.lastname: Gibson
authors.forename: C F
authors.initials: CF
authors.lastname: Lee
authors.forename: M J
authors.initials: MJ
authors.lastname: Bennett
authors.forename: B
authors.initials: B
authors.lastname: Holmes
authors.forename: W L
authors.initials: WL
authors.lastname: Nyhan
mesh_terms: D000409:Alanine / Q000378:metabolism; D000445:Aldehyde Oxidoreductases / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000378:metabolism*; D002648:Child; D005347:Fibroblasts / Q000201:enzymology / Q000378:metabolism; D006801:Humans; D006884:Hydroxybutyrate Dehydrogenase / Q000172:deficiency; D007532:Isoleucine / Q000378:metabolism; D008297:Male; D050605:Malonate-Semialdehyde Dehydrogenase (Acetylating); D050646:Methylmalonate-Semialdehyde Dehydrogenase (Acylating); D014633:Valine / Q000378:metabolism
chemical_list: D007532:Isoleucine; D006884:Hydroxybutyrate Dehydrogenase; D000445:Aldehyde Oxidoreductases; C050832:ethylmalonate-semialdehyde dehydrogenase; D050605:Malonate-Semialdehyde Dehydrogenase (Acetylating); D050646:Methylmalonate-Semialdehyde Dehydrogenase (Acylating); D014633:Valine; D000409:Alanine