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 atte...

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Bibliographic Details
Published in:European journal of pediatrics 1981-07, Vol.136 (3), p.319-323
Main Authors: Duran, M, Ketting, D, de Bree, P K, van Sprang, F J, Wadman, S K, Penders, T J, Wilms, R H
Format: Article
Language:English
Subjects:
Amino Acid Metabolism, Inborn Errors - diagnosis
Child, Preschool
Epilepsy - diagnosis
Folic Acid - metabolism
Formiminoglutamic Acid - urine
Glutarates - urine
Histidine - metabolism
Humans
Intellectual Disability - diagnosis
Male
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Summary: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.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF00443002