一个患有高缬氨酸血症的家族。
A sibship with hypervalinemia.
作者信息
Reddi O S, Reddy S V, Reddy K R
出版信息
Hum Genet. 1977 Nov 2;39(1):139-42. doi: 10.1007/BF00273165.
PMID:924441
Abstract
During routine screening of amino-acid disorders, we detected hypervalinemia in two sibs (a girl of 4 and a boy of 3 years of age) of a consanguineous marriage. There was no excess accumulation or excretion of leucine or isoleucine, which presumably indicates the absence of valine transaminase.
摘要
在对氨基酸紊乱进行常规筛查期间，我们在一对近亲结婚夫妇的两个孩子（一个4岁女孩和一个3岁男孩）中检测到高缬氨酸血症。亮氨酸或异亮氨酸没有过量蓄积或排泄，这大概表明缺乏缬氨酸转氨酶。
Zotero 插件