胱硫醚β-合酶缺乏症：B6无反应型同型胱氨酸尿症中蛋氨酸限制后补充甜菜碱的效果
Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.
作者信息
Singh Rani H, Kruger Warren D, Wang Liqun, Pasquali Marzia, Elsas Louis J
机构信息
Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.
出版信息
Genet Med. 2004 Mar-Apr;6(2):90-5. doi: 10.1097/01.gim.0000117334.84388.f4.
PURPOSE
For treatment of cystathionine beta-synthase (CbetaS) deficiency, we determined the effect of betaine (N,N,N-trimethylglycine) therapy and examined the genotype-phenotype relationships to betaine.
METHODS
In five patients with B6-nonresponsive homocystinuria, we defined the CbetaS genotypes and determined metabolic responses to betaine as an additive to traditional dietary methionine restriction.
RESULTS
After betaine therapy, tHcy declined (mean 47.4 micromol/L; range: -21.2 to -104.0 micromol/L; P=0.02), whereas total plasma cysteine and methionine did not change. Plasma methionine/tHcy ratios increased by 5.45 (range: +1.5 to 15.3; P=0.05) inpatients with B6-nonresponsive alleles.
CONCLUSION
Betaine improves metabolic control in B6-nonresponsive patients with homocystinuria after optimum dietary control.
目的
为了治疗胱硫醚β-合酶（CβS）缺乏症，我们确定了甜菜碱（N，N，N-三甲基甘氨酸）治疗的效果，并研究了基因型与甜菜碱表型之间的关系。
方法
在5例对维生素B6无反应的同型胱氨酸尿症患者中，我们确定了CβS基因型，并确定了作为传统饮食蛋氨酸限制添加剂的甜菜碱的代谢反应。
结果
甜菜碱治疗后，总同型半胱氨酸（tHcy）下降（平均47.4微摩尔/升；范围：-21.2至-104.0微摩尔/升；P=0.02），而血浆总半胱氨酸和蛋氨酸没有变化。在具有维生素B6无反应等位基因的患者中，血浆蛋氨酸/tHcy比值增加了5.45（范围：+1.5至15.3；P=0.05）。
结论
在最佳饮食控制后，甜菜碱可改善对维生素B6无反应的同型胱氨酸尿症患者的代谢控制。
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