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[双胞胎中的维生素B12依赖性甲基丙二酸血症]

[Vitamin-B12-dependent methylmalonic acidemia in twins].

作者信息

Karsten J, Hansen H G, Heuer R, Wulff U C, Kneer J

出版信息

Monatsschr Kinderheilkd. 1983 May;131(5):289-92.

PMID:6877249
Abstract

The tendency towards metabolic acidosis developing during simple infections lead to the detection of hyperglycinemia which was shown to be caused by the rare inborn error of metabolism, which was shown to be a methylmalonic acidemia, in identical twins. Under a protein restricted diet and vitamin-B12-injections once a week, all clinical symptoms disappeared so that vitamin-B12-dependency became evident. Under this therapeutic regimen methylmalonic aciduria was well under control.

摘要

单纯感染期间出现代谢性酸中毒的倾向导致检测到高甘氨酸血症,在同卵双胞胎中发现这是由罕见的先天性代谢缺陷引起的,结果显示为甲基丙二酸血症。在蛋白质限制饮食和每周一次维生素B12注射的情况下,所有临床症状消失,因此维生素B12依赖性变得明显。在这种治疗方案下,甲基丙二酸尿症得到了很好的控制。

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