Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: an inborn error of beta-alanine, L-valine and L-alloisoleucine metabolism?
Gibson
K M
KM
Metabolic Disease Center, Baylor Research Institute, Dallas, Texas, USA.
Lee
C F
CF
Bennett
M J
MJ
Holmes
B
B
Nyhan
W L
WL
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
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