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高精氨酸血症、癫痫与胍基化合物的代谢

Hyperargininemia, epilepsy and the metabolism of guanidino compounds.

作者信息

Wiechert P, Marescau B, De Deyn P P, Lowenthal A

出版信息

Padiatr Grenzgeb. 1989;28(2):101-6.

PMID:2657590
Abstract

Patients with hyperargininemia have an arginase deficiency which leads to blockade of the urea cycle in the last step with several clinical symptoms. Owing to the arginase deficiency this patients accumulate arginine which leads to eventual alternative yet unknown pathways of arginine metabolism. These clinical and biochemical findings intensified the research on guanidino compounds. It has been shown that most of the guanidino compounds are epileptogenic. Therefore we investigated the levels of 12 guanidino compounds in serum and brain of audiogenic sensitive rats. The changes of some guanidino compounds in serum and brain will be discussed.

摘要

高精氨酸血症患者存在精氨酸酶缺乏,这会导致尿素循环在最后一步受阻,并引发多种临床症状。由于精氨酸酶缺乏,这些患者会积累精氨酸,进而导致精氨酸代谢出现未知的替代途径。这些临床和生化发现加强了对胍基化合物的研究。已表明大多数胍基化合物具有致癫痫性。因此,我们研究了听源性敏感大鼠血清和脑中12种胍基化合物的水平。将讨论血清和脑中一些胍基化合物的变化。

相似文献

1
Hyperargininemia, epilepsy and the metabolism of guanidino compounds.高精氨酸血症、癫痫与胍基化合物的代谢
Padiatr Grenzgeb. 1989;28(2):101-6.
2
Guanidino compound analysis as a complementary diagnostic parameter for hyperargininemia: follow-up of guanidino compound levels during therapy.胍基化合物分析作为高精氨酸血症的补充诊断参数:治疗期间胍基化合物水平的随访
Pediatr Res. 1990 Mar;27(3):297-303. doi: 10.1203/00006450-199003000-00020.
3
Hyperargininemia with arginase deficiency.伴有精氨酸酶缺乏的高精氨酸血症
Pediatr Res. 1979 Jul;13(7):827-33. doi: 10.1203/00006450-197907000-00007.
4
Excretion of guanidino-derivates in urine of hyperargininemic patients.
J Genet Hum. 1976 Mar;24(1):61-72.
5
Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia.高精氨酸血症小鼠模型中血浆和组织胍基化合物增加。
Mol Genet Metab. 2008 Feb;93(2):172-8. doi: 10.1016/j.ymgme.2007.09.016. Epub 2007 Nov 7.
6
Liver fibrosis in arginase deficiency.精氨酸酶缺乏症中的肝纤维化。
Arch Pathol Lab Med. 1987 Aug;111(8):691-2.
7
Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia.高精氨酸血症患者肝脏精氨酸酶基因突变(D128G、H141L)的鉴定
Hum Mutat. 1994;4(2):150-4. doi: 10.1002/humu.1380040210.
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[Hyperargininemia. Clinical aspects and molecular basis of the defect].[高精氨酸血症。缺陷的临床方面和分子基础]
Pediatr Pol. 1987 Apr;62(4):261-72.
9
[Hyperargininemia with arginase deficiency. A new familial metabolic disease. II. Biochemical studies].[精氨酸酶缺乏所致高精氨酸血症。一种新的家族性代谢疾病。II. 生化研究]
Z Kinderheilkd. 1970;107(4):313-23.
10
[Hyperargininemia wityh arginase deficiency. A new familial metabolic disease. I. Clinical studies].[精氨酸酶缺乏所致高精氨酸血症。一种新的家族性代谢疾病。I. 临床研究]
Z Kinderheilkd. 1970;107(4):298-312.

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