两名患有维生素B6无反应性胱硫醚β-合酶缺乏症的新生儿期同胞，其血液蛋氨酸水平不同。
Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period.
作者信息
Watanabe T, Ito M, Naito E, Yokota I, Matsuda J, Kuroda Y
机构信息
Department of Pediatrics, University of Tokushima School of Medicine, Japan.
出版信息
J Med Invest. 1997 Aug;44(1-2):95-7.
PMID:9395725
Abstract
We present two siblings with vitamin B6-nonresponsive homocystinuria due to a deficiency of cystathionine beta-synthase who had different levels of methionine in the blood during the neonatal period, even though they had the same genetic defect. One of them was missed in the screening of newborns for homocystinuria. Special care should be taken in screening neonates for homocystinuria using the blood level of methionine.
摘要
我们报告了两名患有维生素B6无反应性同型胱氨酸尿症的兄弟姐妹，他们因胱硫醚β-合酶缺乏而患病，尽管具有相同的基因缺陷，但在新生儿期血液中的蛋氨酸水平却有所不同。其中一人在新生儿同型胱氨酸尿症筛查中被漏检。在使用血液蛋氨酸水平筛查新生儿同型胱氨酸尿症时应格外小心。
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