血脑苯丙氨酸转运与苯酮尿症临床表型的关系及治疗新探索
The Relationship between Blood-Brain Phenylalanine Transport and Clinical Outcome of Phenylketonuria and it′s Exploration of Treatment
摘要
苯酮尿症患者血中高浓度的苯丙氨酸(Phe)与其他大分子中性氨基酸竞争血脑屏障氨基酸转运体进入脑内,影响脑发育。通过氢磁共振波谱分析可测定脑Phe浓度,通常血/脑Phe的浓度比例约为3∶1。研究发现,脑Phe浓度较血Phe浓度与临床表型的相关性更大。个体血脑屏障对Phe的转运与脑Phe浓度相关,高表观转运米氏常数、低最大转运速率/脑内消耗率者的脑Phe浓度较低,对脑白质的损伤及智能发育的影响均较小;采用大分子中性氨基酸制剂可降低患者脑内Phe浓度,改善脑内神经递质合成,成为苯酮尿症治疗方面的又一新的探索。
出处
《国际儿科学杂志》
2007年第6期461-463,共3页
International Journal of Pediatrics
参考文献21
-
1Moats RA, Koch R, Moseley K, et al. Brain phenylalanine concentration in the management of adults with phenylketonuria[J]. J Inherit Metab Dis, 2000,23(1 ) : 7-14.
-
2Koch R,Moats R, Guttler F, et al. Blood-brain phenylalanine relationships in persons with phenylketonuria[J]. Pediatrics,2000,106(5) : 1093-1096.
-
3Pardridge WM. Blood-brain barrier carrie-mediated transport and brain metabolism of amino acids [J]. Neurochen Res, 1998,23(5) :635-644.
-
4Segawa H, Fukasawa Y, Miyamoto K, et al. Identifictaion and functional characterization of a Na^+ -independent neutral amino acid transporter with broad substrate selectivity[J].J Biol Chem,1999,274(28):19745-19751.
-
5Babu E, Kanai Y,Chairoungdua A,et al. Identification of a novel system L amino acid transporter structurally distinct from heterodimeric amino acid transporters[J]. J Biol Chem,2003,278(44) :43838-43845.
-
6Bodoy S, Martin L,Zorzano A, et al. Identification of LAT4, a novel amino acid transporter with system L activity[J]. J Biol Chem, 2005,280(12) : 12002-12011.
-
7Moller L, Paul,sen M, Koch R, et al. Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex[J]. Md Genet Metab, 2005, 86 (Suppl 1):S119-123.
-
8Leuzzi V, Bianchi MC,Tosetti M,et al.Clinical significance of brain phenyialamine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria[J]. J Inherit Metab Dis,2000,23(6):563-570.
-
9Pietz J, Lutz T, Zwygart K,et al. Phenylalanine can be detected in brain tissue of healthy subjects by 1 H magnetic resonance spectroscopy [ J ]. J Inherit Metab Dis,2003,26(7) :683-691.
-
10Sijens PE, Oudkerk M, Reijingoud D J, et al. 1 H MR chemical shift imaging detection of phenylalanine in patients suffering from phenylketonuria(PKU ) [J]. Fur Radiol, 2004,14(10) :1895-1900.
-
1杨凌,张知新.四氢生物蝶呤反应性苯酮尿症的研究进展[J].国外医学（儿科学分册）,2005,32(5):305-308. 被引量：1
-
2陈瑞冠,钱大龙.国产低苯丙氨酸奶方（苯酮安）治疗苯丙酮尿症[J].中华儿科杂志,1990,28(5):258-260. 被引量：4
-
3莫喜明,王瑞,唐爱国.四氢生物喋呤响应的苯丙氨酸羟化酶缺陷研究进展[J].国际检验医学杂志,2006,27(6):505-506.
-
4王志新,周忠蜀.苯丙酮尿症生化学异常与脑神经损伤关系的研究进展[J].国外医学（儿科学分册）,2005,32(1):24-26. 被引量：6
-
5陈荣生,赵宗美,宗国芳,李翠芝,游文风,陈勇夫,王建国,李振三,闻立斗.苯丙酮尿症(附5例临床及遗传学检查资料)[J].中风与神经疾病杂志,1989,6(2):90-92.
-
6李丽欣,王亚凡,封纪珍,马翠霞,弓苗,封露露.石家庄市新生儿高苯丙氨酸血症筛查及治疗情况分析[J].河北医科大学学报,2014,35(9):1078-1080. 被引量：2
-
7仇东辉,余伍忠,刘丽,张宇红,华亮,周常文.经典型苯丙酮尿症的治疗分析[J].中国优生与遗传杂志,2001,9(2):118-119. 被引量：1
-
8谭亚琼,王超,贾政军,盛小奇.苯丙酮尿症尿液生物标志物的研究进展[J].实用预防医学,2016,23(5):638-640. 被引量：6
-
9喻唯民.苯丙酮尿症治疗的建议[J].中国食物与营养,1996,2(4):31-31. 被引量：3
-
10徐如祥,易声禹,王伯云.实验性脑损伤早期血脑屏障通透性定量研究[J].中华创伤杂志,1990,6(3):142-144. 被引量：23
