Erythrocyte formimino glutamate transferase in FIGLU aciduria.
A patient is described who presented at an early age with failure to thrive and vomiting, and had a gross excretion of formimino glutamic acid. She had normal concentration of serum folate and vitamin B12, and no haematological abnormalities, and is not mentally retarded. The Michaelis constant for erythrocyte formimino glutamate transferase was in the normal range, but the enzyme behaves differently from that from reference subjects with respect to inhibitors and activators.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D002851:Chromatography, High Pressure Liquid; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005492:Folic Acid / Q000097:blood; D005565:Formiminoglutamic Acid / Q000652:urine*; D051042:Glutamate Formimidoyltransferase; D005977:Glutarates / Q000652:urine*; D006639:Histidine / Q000378:metabolism; D006801:Humans; D019877:Hydroxymethyl and Formyl Transferases; D007223:Infant; D008099:Liver / Q000201:enzymology; D014166:Transferases / Q000097:blood* / Q000172:deficiency; D014805:Vitamin B 12 / Q000097:blood
D005977:Glutarates; D006639:Histidine; D005565:Formiminoglutamic Acid; D005492:Folic Acid; D014166:Transferases; D019877:Hydroxymethyl and Formyl Transferases; D051042:Glutamate Formimidoyltransferase; D014805:Vitamin B 12