A case of formiminoglutamic aciduria. Clinical and biochemical studies.
We describe a boy who excreted massive amounts of formiminoglutamic acid and hydantoin-5-propionic acid in his urine. He was mildly mentally retarded and epileptic, whereas his twin-brother was completely normal. Loading with L-histidine enhanced the excretion of both metabolites. Treatment was attempted with high doses of folic acid and methionine, but both were without effect on the excretion levels.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D002675:Child, Preschool; D004827:Epilepsy / Q000175:diagnosis; D005492:Folic Acid / Q000378:metabolism*; D005565:Formiminoglutamic Acid / Q000652:urine*; D005977:Glutarates / Q000652:urine*; D006639:Histidine / Q000378:metabolism*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male
D005977:Glutarates; D006639:Histidine; D005565:Formiminoglutamic Acid; D005492:Folic Acid