Tohoku J. Exp. Med., 1969, 98

Hyperglycinemia: A Defect in Glycine Cleavage Reaction

KEIYA TADA, KUNIAKI NARISAWA, TOSHIO YOSHIDA, TASUKE KONNO, YOSHIMASA YOKOYAMA, HIROSHI NAKAGAWA, KANEO TANNO, KEIKO MOCHIZUKI, TSUNEO ARAKAWA, TADASHI YOSHIDA* and GORO KIKUCHI*

Department of Pediatrics (Prof. Ts. Arakawa), Faculty of Medicine, Tohoku University, Sendai

*Department of Biochemistry (Prof. G. Kikuchi), Faculty of Medicine, Tohoku University, Sendai

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 glycine-1-14C and the rate of 14C incorporation into serine from glycine-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-hydroxymethylase and serine-dehydratase.

These findings indicate that the primary lesion of hyperglycinemia of nonketotic type is a defect in the glycine cleavage reaction which gives rise to the formation of CO2, methylene-tetrahydrofolate and ammonia from glycine.

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Tohoku J. Exp. Med., 1969, 98, 289-296