严重氨甲酰磷酸合成酶I缺乏症的成功治疗。
Successful treatment of severe carbamyl phosphate synthetase I deficiency.
作者信息
Van de Bor M, Mooy P, van Zoeren D, Berger R, van Gelderen H H, Teijema H L
出版信息
Arch Dis Child. 1984 Dec;59(12):1183-5. doi: 10.1136/adc.59.12.1183.
Abstract
We describe a girl with neonatal hyperammonaemia due to carbamyl phosphate synthetase I deficiency. Treatment consisted of protein restriction from the second day of life. Sodium benzoate was given for three weeks after birth and again from 7 months of age together with sodium phenylacetate to improve protein tolerance. Growth and development are normal at 15 months of age.
摘要
我们描述了一名因氨甲酰磷酸合成酶I缺乏导致新生儿高氨血症的女孩。治疗从出生第二天开始采用蛋白质限制措施。出生后给予苯甲酸钠三周，7个月大时再次给予苯甲酸钠并联合苯乙酸钠以提高蛋白质耐受性。15个月大时生长发育正常。
相似文献
1
Successful treatment of severe carbamyl phosphate synthetase I deficiency.严重氨甲酰磷酸合成酶I缺乏症的成功治疗。
Arch Dis Child. 1984 Dec;59(12):1183-5. doi: 10.1136/adc.59.12.1183.
2
Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency.两名患有氨甲酰磷酸合成酶缺乏症的姐妹急性新生儿高氨血症的前瞻性诊断与临床诊断及治疗
J Inherit Metab Dis. 1992;15(2):269-77. doi: 10.1007/BF01799641.
3
Amino acid acylation: a mechanism of nitrogen excretion in inborn errors of urea synthesis.氨基酸酰化：尿素合成先天性代谢异常中氮排泄的一种机制。
Science. 1980 Feb 8;207(4431):659-61. doi: 10.1126/science.6243418.
4
Late clinical presentation of partial carbamyl phosphate synthetase I deficiency.部分氨甲酰磷酸合成酶I缺乏症的晚期临床表现
Am J Dis Child. 1993 Mar;147(3):267-9. doi: 10.1001/archpedi.1993.02160270029012.
5
Siblings with carbamyl phosphate synthetase I deficiency.患有氨甲酰磷酸合成酶I缺乏症的兄弟姐妹。
Acta Pathol Jpn. 1984 Jul;34(4):901-10. doi: 10.1111/j.1440-1827.1984.tb07621.x.
6
Prospective management of a child with neonatal citrullinemia.新生儿瓜氨酸血症患儿的前瞻性管理。
J Pediatr. 1993 Jan;122(1):96-8. doi: 10.1016/s0022-3476(05)83497-3.
7
[Carbamyl phosphate synthase deficiency: clinical symptoms, diagnosis and dietary-medicamentous treatment in the neonatal period and infancy].
Helv Paediatr Acta. 1989 Jun;43(5-6):493-505.
8
[Lethal neonatal deficiency of carbamyl phosphate synthetase (author's transl)].致死性新生儿氨甲酰磷酸合成酶缺乏症（作者译）
Padiatr Padol. 1982;17(2):371-82.
9
Kinetic abnormalities of carbamyl phosphate synthetase-I in a case of congenital hyperammonaemia.先天性高氨血症一例中氨甲酰磷酸合成酶-I的动力学异常
J Inherit Metab Dis. 1986;9(3):253-60. doi: 10.1007/BF01799657.
10
Cognitive functioning in two sisters with carbamyl phosphate synthetase I deficiency.两名患有氨甲酰磷酸合成酶I缺乏症的姐妹的认知功能。
J Pediatr Psychol. 1981 Jun;6(2):171-5. doi: 10.1093/jpepsy/6.2.171.
引用本文的文献
1
Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency.两名患有氨甲酰磷酸合成酶缺乏症的姐妹急性新生儿高氨血症的前瞻性诊断与临床诊断及治疗
J Inherit Metab Dis. 1992;15(2):269-77. doi: 10.1007/BF01799641.
本文引用的文献
1
Comparative biochemistry of urea synthesis. I. Methods for the quantitative assay of urea cycle enzymes in liver.尿素合成的比较生物化学。I. 肝脏中尿素循环酶的定量测定方法。
J Biol Chem. 1959 Jul;234(7):1769-74.
2
Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.尿素合成先天性缺陷的治疗：激活废氮合成与排泄的替代途径。
N Engl J Med. 1982 Jun 10;306(23):1387-92. doi: 10.1056/NEJM198206103062303.
3
Zotero 插件