“Hyperfolic-acidemia with Formiminoglutamic-acjduria Following Histidine Loading”

Abstract

A peculiar disorder of a female, aged 8 months old, was presented. Clinical characteristics were round face, obesity, retardation of mental and physical development, and a slight tendency to hyper segmentation of neutrophils in the peripheral blood. Biochemically, an abnormally high level of serum folic acid activity and an excessive excretion of formimino-glutamic-acid into urine following histidine loading were confirmed. These abnormalities were considered due to a marked decrease in formiminotransferase which was demonstrated in the liver biopsied from our own patient. This defect in formiminotransferase in the liver may be of hereditary origin. A term "hyperfolic-acidemia with formiminoglutamic-aciduria following histidine loading" may be suggested for this new entity of inborn error of folic acid metabolism.