Hyperglycinemia: A Defect in Glycine Cleavage Reaction

• DOI: 10.1620/tjem.98.289
• Publication Date: 2009-10-08T04:57:47Z
• Authors: Keiya Tada; Kuniaki Narisawa; Toshio Yoshida; Tasuke Konno; Yoshimasa Yokoyama; Hiroshi Nakagawa; Kaneo Tanno; Keiko Mochizuki; Tsuneo Arakawa; Tadashi Yoshida; Goro Kikuchi
• Keywords: Carbon Isotopes; L-Serine Dehydratase; Autoanalysis; Time Factors; Carbohydrates; Glycine; Leucovorin; Infant; Carbon Dioxide; In Vitro Techniques; 3. Good health; Liver; Ammonia; Transferases; Injections, Intravenous; Serine; Humans; Female; Chromatography, Thin Layer; Amino Acids; Amino Acid Metabolism, Inborn Errors

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 14CO2 from glyeine-l-14C and the rate of 11C incorporation into serine from glyeine-l-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.