“Hyperfolic-acidemia with Formiminoglutamic-acjduria Following Histidine Loading”
- 1 January 1963
- journal article
- research article
- Published by Tohoku University Medical Press in The Tohoku Journal of Experimental Medicine
- Vol. 80 (4), 370-382
- https://doi.org/10.1620/tjem.80.370
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.This publication has 4 references indexed in Scilit:
- ABNORMAL FOLIC ACID METABOLISM IN VITAMIN B12 DEFICIENCY1962
- THE ASSAY AND NATURE OF FOLIC ACID ACTIVITY IN HUMAN SERUM*Journal of Clinical Investigation, 1961
- The Enzymatic Formation of Formiminotetrahydrofolic Acid, 5,10-Methenyltetrahydrofolic Acid, and 10-Formyltetrahydrofolic Acid in the Metabolism of Formiminoglutamic AcidJournal of Biological Chemistry, 1959
- Histidine Metabolic Loading Test to Distinguish Folic Acid Deficiency From Vit. B12 in Megaloblastic Anemias.Experimental Biology and Medicine, 1959