formiminoglutamic-acid and Intellectual-Disability

Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Animals; Child; Child, Preschool; Female; Formiminoglutamic Acid; Histidine; Histidine Ammonia-Lyase; Humans; Infant; Infant, Newborn; Intellectual Disability; Mass Screening; Polymorphism, Genetic; Pregnancy; Speech Disorders; Urocanic Acid

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

A 2-year-old boy excreted massive amounts of formiminoglutamic acid in urine. The substance was identified as authentic formiminoglutamic acid by two-dimensional thin-layer chromatography, column chromatography and enzymatic determination. After alkaline hydrolysis the substance was converted to glutamic acid. Serum amino acid concentrations were normal. The patient had normal serum and erythrocyte folate levels. The red blood cell picture was normal. The leukocytes showed slight hypersegmentation. From the age of 3 months he exhibited recurrent otitis media and severe pulmonary infections. He had a peculiar narrow-headed look and marked universal hypotonia. The mental development was slightly retarded. Glutamate formiminotransferase deficiency is postulated. The findings lend support to the theory of glutamate formiminotransferase deficiency being a rather benign disorder of metabolism.

Topics: Child, Preschool; Chromatography, Thin Layer; Erythrocytes; Folic Acid; Formiminoglutamic Acid; Glutamate Formimidoyltransferase; Glutarates; Humans; Hydroxymethyl and Formyl Transferases; Intellectual Disability; Lung Diseases, Obstructive; Male; Transferases

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