Petry K G, Reichardt J K
Institut François Magendie, INSERM U.394 Neurobiologie intégrative, Université Victor Segalen/Bordeaux 2, France.
Trends Genet. 1998 Mar;14(3):98-102. doi: 10.1016/s0168-9525(97)01379-6.
Cloning and characterization of all three human galactose-metabolic genes (GALK, GALT and GALE) has led to the identification of a number of mutations which are generally of the missense type in patients with galactosemia, an inborn error of metabolism. The predominance of missense mutations is interesting, considering the general importance of galactose metabolism for cellular energy production and proper modification of glycoproteins and glycolipids. Abnormalities in both of these macromolecules have been described in transferase-deficiency galactosemia, the most common and best-studied form of galactosemia. Thus, the parallel biochemical and molecular genetic analyses of human galactose metabolism are shedding light on this under-appreciated metabolic pathway that is critical for cellular energy production, modification of cellular macromolecules and normal human development.
对所有三个人类半乳糖代谢基因（GALK、GALT和GALE）的克隆及特性分析，已导致鉴定出许多突变，这些突变在半乳糖血症（一种先天性代谢缺陷）患者中通常为错义类型。考虑到半乳糖代谢对细胞能量产生以及糖蛋白和糖脂的正确修饰的总体重要性，错义突变的 predominance 很有趣。在转移酶缺乏型半乳糖血症（半乳糖血症最常见且研究最充分的形式）中，已描述了这两种大分子的异常情况。因此，对人类半乳糖代谢进行的平行生化和分子遗传学分析，正在揭示这条未得到充分认识的代谢途径，该途径对于细胞能量产生、细胞大分子修饰及正常人类发育至关重要。
