title: Riboflavin responsive ethylmalonic-adipic aciduria in a 9-month-old boy with liver cirrhosis, myopathy and encephalopathy.
authors.affiliation: Laboratoire de Biochimie, Hôpital Bicêtre, Le Kremlin-Bicetre, France.
authors.forename: M
authors.initials: M
authors.lastname: Brivet
authors.forename: M
authors.initials: M
authors.lastname: Tardieu
authors.forename: A
authors.initials: A
authors.lastname: Khellaf
authors.forename: A
authors.initials: A
authors.lastname: Boutron
authors.forename: F
authors.initials: F
authors.lastname: Rocchiccioli
authors.forename: C A
authors.initials: CA
authors.lastname: Haengeli
authors.forename: A
authors.initials: A
authors.lastname: Lemonnier
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency / Q000378:metabolism; D000272:Adipates / Q000652:urine*; D001927:Brain Diseases / Q000151:congenital / Q000188:drug therapy* / Q000652:urine; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D008103:Liver Cirrhosis / Q000151:congenital / Q000188:drug therapy* / Q000652:urine; D008314:Malonates / Q000652:urine*; D008661:Metabolism, Inborn Errors / Q000188:drug therapy* / Q000652:urine; D009135:Muscular Diseases / Q000151:congenital / Q000188:drug therapy* / Q000652:urine; D019814:Myristic Acid; D009227:Myristic Acids / Q000378:metabolism; D010084:Oxidation-Reduction; D019308:Palmitic Acid; D010169:Palmitic Acids / Q000378:metabolism; D012256:Riboflavin / Q000627:therapeutic use*
chemical_list: D000272:Adipates; D005227:Fatty Acids; D008314:Malonates; D009227:Myristic Acids; D010169:Palmitic Acids; D019814:Myristic Acid; D019308:Palmitic Acid; C038080:ethylmalonic acid; C029900:adipic acid; D015094:3-Hydroxyacyl CoA Dehydrogenases; D012256:Riboflavin