Lewis V, Welch F, Cherry F, Flood E, Marble M
Tulane University School of Medicine, New Orleans, USA.
J La State Med Soc. 1995 Jun;147(6):262-5.
The case report and discussion presented here were prepared in response to legislation in Louisiana which requires that the Dept of Health and Hospitals establish a program to inform physicians and hospitals of the current medical standards for the diagnosis, clinical management, and recognition of galactosemia. Classical galactosemia is an inborn error of galactose metabolism caused by a deficiency of galactose-1-phosphate uridryl transferase. It is inherited as an autosomal recessive trait and its estimated occurrence is 1/60,000. The presenting symptoms which include vomiting, diarrhea, jaundice, and failure to thrive result from the ingestion of foods containing galactose--breast milk and formulas containing cow's milk. Although some states routinely screen all newborns for galactosemia, the results of the newborn screening are often not available before the infant presents with symptoms. Early recognition and immediate withdrawal of galactose from the diet can prevent serious morbidity and mortality. There is significant clinical variability and not all infants present with typical acute manifestations of the disease.
本文所呈现的病例报告及讨论内容，是应路易斯安那州的一项立法要求而撰写的。该立法规定，卫生与医院部需制定一项计划，向医生和医院通报当前关于半乳糖血症诊断、临床管理及识别的医学标准。典型的半乳糖血症是一种因缺乏1-磷酸半乳糖尿苷转移酶而导致的半乳糖代谢先天性缺陷。它作为常染色体隐性性状遗传，估计发病率为1/60,000。出现的症状包括呕吐、腹泻、黄疸和发育不良，这些症状是由于摄入含半乳糖的食物——母乳和含牛奶的配方奶所致。尽管一些州会对所有新生儿进行常规的半乳糖血症筛查，但新生儿筛查结果往往在婴儿出现症状之前无法获取。早期识别并立即从饮食中去除半乳糖可预防严重的发病和死亡情况。临床存在显著变异性，并非所有婴儿都会出现该疾病典型的急性表现。
