Shaw Kelly A, Mulle Jennifer G, Epstein Michael P, Fridovich-Keil Judith L
Graduate Division of Biological and Biomedical Sciences, Emory University, Atlanta, GA, USA.
Department of Epidemiology, Emory University School of Public Health, Atlanta, GA, USA.
JIMD Rep. 2017;33:27-32. doi: 10.1007/8904_2016_575. Epub 2016 Jul 1.
Classic galactosemia (CG) is an autosomal recessive disorder of galactose metabolism that affects approximately 1/50,000 live births in the USA. Following exposure to milk, which contains large quantities of galactose, affected infants may become seriously ill. Early identification by newborn screening with immediate dietary galactose restriction minimizes or prevents the potentially lethal acute symptoms of CG. However, more than half of individuals with CG still experience long-term complications including cognitive disability, behavioral problems, and speech impairment. Anecdotal reports have also suggested frequent gastrointestinal (GI) problems, but this outcome has not been systematically addressed. In this study we explored the prevalence of GI symptoms among 183 children and adults with CG (cases) and 190 controls. Cases reported 4.5 times more frequent constipation (95% CI 1.8-11.5) and 4.2 times more frequent nausea (95% CI 1.2-15.5) than controls. Cases with genotypes predicting residual GALT activity reported less frequent constipation than cases without predicted GALT activity but this difference was not statistically significant. Because the rigor of dietary galactose restriction varies among individuals with galactosemia, we further tested whether GI symptoms associated with diet in infancy. Though constipation was almost four times as common among cases reporting a more restrictive diet in infancy, this difference was not statistically significant. These data confirm that certain GI symptoms are more common in classic galactosemia compared to controls and suggest that future studies should investigate associations with residual GALT activity and dietary galactose restriction in early life.
经典型半乳糖血症（CG）是一种常染色体隐性半乳糖代谢紊乱疾病，在美国每50000例活产婴儿中约有1例受影响。接触含有大量半乳糖的牛奶后，患病婴儿可能会病情严重。通过新生儿筛查尽早发现并立即限制饮食中的半乳糖，可将CG潜在的致命急性症状降至最低或预防。然而，超过一半的CG患者仍会出现长期并发症，包括认知障碍、行为问题和言语障碍。轶事报告也表明存在频繁的胃肠道（GI）问题，但这一结果尚未得到系统研究。在本研究中，我们探讨了183例CG儿童和成人（病例组）及190例对照者中GI症状的患病率。病例组报告的便秘频率比对照组高4.5倍（95%CI 1.8 - 11.5），恶心频率比对照组高4.2倍（95%CI 1.2 - 15.5）。预测有残余GALT活性基因型的病例便秘频率低于无预测GALT活性的病例，但差异无统计学意义。由于半乳糖血症患者饮食中半乳糖限制的严格程度因人而异，我们进一步测试了婴儿期GI症状是否与饮食有关。尽管在婴儿期饮食限制更严格的病例中便秘几乎是其他病例的四倍，但差异无统计学意义。这些数据证实，与对照组相比，某些GI症状在经典型半乳糖血症中更常见，并表明未来的研究应调查其与残余GALT活性及生命早期饮食半乳糖限制的关联。
