HYPERGLYCINEMIA - A DEFECT IN GLYCINE CLEAVAGE REACTION

A girl with hyperglycinemia of nonketotic type was presented. The liver biopsied from the patient was studied for glycine metabolism. It was found that the yield of 14CO2from glyeine-1-14C and the rate of 14C incorporation into serine from glyeine-1-14C as well as glycine-2-14C were extremely low in the patient's liver than in control livers, while the patient's liver showed normal activities of serine hydroxyrnethylase and serine-dehydratase. These findings indicate that the primary lesion of hyperglycinemia of nonketotic type is a defect in the glyeine cleavage reaction which gives rise to the formation of CO2, methylene-tetrahydrofolate and ammonia from glyeine. © 1969, Tohoku University Medical Press. All rights reserved.