formiminoglutamic-acid and Epilepsy

Topics: Adult; Aged; Anemia, Megaloblastic; Anticonvulsants; Blood-Brain Barrier; Brain; Brain Diseases; Child; Epilepsy; Erythrocytes; Female; Folic Acid; Folic Acid Deficiency; Formiminoglutamic Acid; Humans; Intellectual Disability; Male; Mental Disorders; Metabolism, Inborn Errors; Methotrexate; Middle Aged; Nervous System Diseases; Vitamin B 12; Vitamin B 12 Deficiency

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.

Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Epilepsy; Folic Acid; Formiminoglutamic Acid; Glutarates; Histidine; Humans; Intellectual Disability; Male

Topics: Anemia; Anemia, Hemolytic; Anemia, Macrocytic; Anemia, Pernicious; Anticonvulsants; Blood; Celiac Disease; Clinical Laboratory Techniques; Epilepsy; Female; FIGLU Test; Folic Acid; Folic Acid Deficiency; Formiminoglutamic Acid; Glutamates; Humans; Lymphoma; Lymphoma, Non-Hodgkin; Pregnancy; Pregnancy Complications; Pregnancy Complications, Hematologic; Urine; Vitamin B 12; Vitamin B Deficiency