Riboflavin responsive ethylmalonic-adipic aciduria in a 9-month-old boy with liver cirrhosis, myopathy and encephalopathy.
Brivet
M
M
Laboratoire de Biochimie, Hôpital Bicêtre, Le Kremlin-Bicetre, France.
Tardieu
M
M
Khellaf
A
A
Boutron
A
A
Rocchiccioli
F
F
Haengeli
C A
CA
Lemonnier
A
A
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*
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