Hyperglycinemia: A Defect in Glycine Cleavage Reaction
Hyperglycinemia: A Defect in Glycine Cleavage Reaction
复制标题
高甘氨酸血症：甘氨酸裂解反应的缺陷
DOI：
10.1620/tjem.98.289
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发表时间：
1969
影响因子：
2.2
通讯作者：
Goro Kikuchi
中科院分区：
文献类型：
--
作者：
Keiya Tada;K. Narisawa;Toshio Yoshida;Tasuke Konno;Yoshimasa Yokoyama;Hiroshi Nakagawa;Kaneo Tanno;Keiko Mochizuki;Tsuneo Arakawa;Tadashi Yoshida;Goro Kikuchi
一个女孩与高甘氨酸血症的非酮症型。对患者的肝活检进行甘氨酸代谢研究。结果表明，患者肝中甘氨酸-1-14 C的~（14）CO_2产率、~（11）C掺入丝氨酸的速率及甘氨酸-2-14 C的~（11）C掺入丝氨酸的速率均极低，而丝氨酸羟甲基化酶和丝氨酸脱氢酶活性正常。这些结果表明，原发性损害的高甘氨酸血症的非酮症型是一个缺陷，在甘氨酸裂解反应，导致形成二氧化碳，亚甲基-四氢叶酸和氨从甘氨酸。
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.