非酮性高甘氨酸血症(non-ketotic hyperglycinemia,NKH)又称甘氨酸脑病(glycine encephalopathy,GE,MIM 605899),因甘氨酸裂解酶系统(glycine cleavage system,GCS)缺陷导致甘氨酸降解障碍,在体内各器官组织,尤其是脑脊液中异常蓄积而引起脑病症状。 【流行病学】 芬兰发病率1/55 000,英属哥伦比亚和加拿大发病率为1/63 00...
NON-KETOTIC HYPERGLYCINEMIA: A LIFE-THREATENING DISORDER IN THE NEONATETada, K.Journal of Perinatal Medicine
非酮性高甘胺酸血症(Non-ketotic hyperglycinemia)(侦测物质:glycine) 甘胺酸除了构成蛋白质外,也是脑部的一种神经传导物 …hplc2.blog.163.com|基于18个网页 2. 先天性非酮性高甘氨酸血症 适应症:先天性非酮性高甘氨酸血症(Non-ketotic hyperglycinemia)之辅助治疗。 药理机转:Sodium Benzoate对先天尿素循环发...
The typical imaging findings of neonatal non-ketotic hyperglycinemia have rarely been described in the radiologic literature with only few individual cases or small series reported. In this article, we present a case of neonatal onset non-ketotic hyperglycinemia, imaged at 6 days of age, and ...
NON-KETOTIC HYPERGLYCINEMIA (NKH) TREATED WITH STRYCHNINE. Jose M. Garcia-Castro, Harve L Lev V i v i a n E. Sh-'i P-TdkGdi. U n i v . o f P u e r t o R i c o Sch. Med., Oept. o f P e d i a t r i c s , Harvard Med. Sch., Dept. o f Neuro., and...
The typical imaging findings of neonatal non-ketotic hyperglycinemia have rarely been described in the radiologic literature with only few individual cases or small series reported. In this article, we present a case of neonatal onset non-ketotic hyperglycinemia, imaged at 6 days of age, and ...
Non-ketotic hyperglycinemiaOprea, IoanMalancioiu, CameliaMartinescu, AdrianGrigore, IoanaRomanian Journal of Pediatrics / Revista Romana de Pediatrie
Non-ketotic hyperglycinemia (NKHG) is an inborn error of glycine metabolism in which large quantities of glycine accumulate in all body tissues, including the brain. This accumulation in central nervous system produces hyperexcitability of neurons and seizures. We report a case of non-ketotic ...
d -Glyceric acidemia and nonketotic hyperglycinemia. Clinical and laboratory findings in a new syndrome. Acta Pediatr. Scand. 65 (1976) 17Brandt, NJ, Rasmussen, K, Brandt, S, Kolvraa, S, Schonheyder, F (1976) D-Glyceric-acidaemia and non-ketotic hyperglycinaemia. Acta Paediatr. Scand...
A. (1978) Non-ketotic hyperglycinemia (NKH): An inborn error of metabolism affecting brain function exclusively. Prog. Brain Res. 48: pp. 199-205De Groot, G. J., Boelieverts, V., Touwen, B. C. L., Hommes, F. A.: Nonketotic hyperglycinemia (NKH): An inborn error of ...