Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG)
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG)
复制标题
DOI：
10.1038/gim.2017.172
复制
发表时间：
2018-01-01
影响因子：
8.8
通讯作者：
Coffee, Bradford
中科院分区：
文献类型：
--
作者：
Pasquali, Marzia;Yu, Chunli;Coffee, Bradford
半乳糖血症是由于参与Leloir途径的三种酶之一缺乏而引起的半乳糖代谢的遗传性疾病：半乳糖-1-磷酸尿苷转移酶、半乳糖激酶和尿苷二磷酸（UDP）-半乳糖-4 '-差向异构酶。半乳糖-1-磷酸尿苷转移酶缺乏症，或经典半乳糖血症，是三种酶缺乏症中最常见和最严重的一种;其特征是发育不良、肝衰竭、对败血症易感，如果不治疗，甚至死亡。典型半乳糖血症的新生儿筛查已在美国全部实施，而半乳糖激酶缺乏症和UDP-半乳糖-4 '-差向异构酶缺乏症的筛查并不普遍。半乳糖血症的早期识别和治疗可改善预后。本文综述了诊断半乳糖血症的实验室方法和最佳实践。
Galactosemias are inherited disorders of galactose metabolism due to deficiency in one of the three enzymes involved in the Leloir pathway: galactose-1-phosphate uridyltransferase, galactokinase, and uridine diphosphate (UDP)-galactose-4'-epimerase. Galactose-1-phosphate uridyltransferase deficiency, or classic galactosemia, is the most frequent and the most severe of the three enzyme deficiencies; it is characterized by failure to thrive, liver failure, susceptibility to sepsis, and death, if untreated. Newborn screening for classic galactosemia has been implemented in all of the United States, while screening for galactokinase deficiency and UDP-galactose-4'-epimerase deficiency is not universal. Early identification and treatment of galactosemia leads to improved outcome. This document reviews the laboratory methods and best practices for the diagnosis of galactosemia.