先天性葉酸代謝異常症 : 先天性Formiminotransferase活性低下症

抄録

A congenital disorder in folic acid metabolism on a female child, aged 8 months, was presented. Clinical characteristics were round face, obesity, retardation of mental and physical development, and a slight tendency to hypersegmentation of neutrophils in the peripheral blood. Biochemically, an abnormally higher level of serum folic acid activity and an excessive excretion of formiminoglutamic acid into urine following histidine loading were confirmed. These abnormalities were considered to be due to a marked decrease in formiminotransferase activity which was demonstrated in the liver, biopsied from the 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 entity of inborn error of folic acid metabolism.