In humans, the absence of galactose-1-phosphate uridyltransferase (GALT) leads to significant neonatal morbidity and mortality which are dependent on galactose ingestion, as well as long-term complications of primary ovarian failure and cognitive dysfunction, which are diet independent. The creation of a knockout mouse model for GALT deficiency was aimed at providing an organism in which metabolic challenges and gene manipulation could address the enigmatic pathophysiologic questions raised by humans with galactosemia. Instead, the mouse represents a biochemical phenotype without evidence of clinical morbidity. The similarities and differences between mice and humans with galactosemia are explored from metabolite, enzyme, and process points of view. The mouse both produces and oxidizes galactose in a manner similar to humans. It differs in brain accumulation of galactitol. Future directions for exploration of this enigmatic condition are discussed.

中文翻译：

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洞悉半乳糖血症的发病机理。

在人类中，不存在半乳糖1-磷酸尿嘧啶转移酶（GALT）会导致严重的新生儿发病率和死亡率，这取决于半乳糖的摄入，以及与饮食无关的原发性卵巢衰竭和认知功能障碍的长期并发症。建立针对GALT缺乏症的基因敲除小鼠模型旨在提供一种生物，其中代谢挑战和基因操纵可以解决半乳糖血症患者提出的神秘病理生理问题。取而代之的是，小鼠代表的是一种生化表型，没有临床发病率的证据。从代谢物，酶和过程的角度探讨了半乳糖血症小鼠和人类之间的异同。小鼠以与人类相似的方式产生和氧化半乳糖。半乳糖醇的大脑蓄积不同。讨论了探索这种神秘状态的未来方向。