ISSN:
1432-1076
Keywords:
Formiminoglutamic aciduria
;
Histidine metabolism
;
Hydantoin-5-propionic acid
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00443002
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