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对非酮症高甘氨酸血症婴儿的治疗尝试。

Therapeutic attempts in infants with nonketotic hyperglycinaemia.

作者信息

Pueschel S M, Cha C J, Langon T

出版信息

J Ment Defic Res. 1981 Mar;25(Pt 1):61-9. doi: 10.1111/j.1365-2788.1981.tb00093.x.

DOI:10.1111/j.1365-2788.1981.tb00093.x
PMID:6264089
Abstract

Identical male twins with non-ketotic hyperglycinaemia did not exhibit any development progress while on strychnine treatment. Since other therapeutic attempts with single agents previously had failed in most instances, we tried a combination of various treatment modalities. The results indicated that the administration of glycine receptor antagonist (strychnine) together with a low-protein diet (1.5 gm/kg/day), augmentation of 1-C units (N(5)-formlytetrahydrofolate), and removal of glycine from extracellular fluid (sodium salicylate and sodium benzoate) yielded some clinical improvement and positive biochemical changes in out patients.

摘要

患有非酮症高甘氨酸血症的同卵双胞胎在接受士的宁治疗期间没有任何发育进展。由于此前大多数情况下单一药物的其他治疗尝试均告失败,我们尝试了多种治疗方式的联合应用。结果表明,给予甘氨酸受体拮抗剂(士的宁)并搭配低蛋白饮食(1.5克/千克/天)、补充1-C单位(N(5)-甲酰四氢叶酸)以及从细胞外液中去除甘氨酸(水杨酸钠和苯甲酸钠),使我们的门诊患者出现了一些临床改善和积极的生化变化。

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Therapeutic attempts in infants with nonketotic hyperglycinaemia.对非酮症高甘氨酸血症婴儿的治疗尝试。
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