Abstract
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.
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Duran, M., Ketting, D., de Bree, P.K. et al. A case of formiminoglutamic aciduria. Eur J Pediatr 136, 319–323 (1981). https://doi.org/10.1007/BF00443002
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DOI: https://doi.org/10.1007/BF00443002