Department of Pediatrics, Section of Biochemical Genetics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Clin Chem. 2010 Jul;56(7):1177-82. doi: 10.1373/clinchem.2010.144097. Epub 2010 May 20.
Duarte galactosemia (DG) is frequently detected in newborn-screening programs. DG patients do not manifest the symptoms of classic galactosemia, but whether they require dietary galactose restriction is controversial. We sought to assess the relationships of selected galactose metabolites (plasma galactose, plasma galactitol, erythrocyte (RBC) galactitol, RBC galactonate, and urine galactitol and galactonate) to RBC galactose 1-phosphate (Gal-1-P), dietary galactose intake, and neurodevelopmental/clinical outcomes in DG children.
We studied 30 children 1-6 years of age who had DG galactosemia and were on a regular diet. All participants underwent a physical and ophthalmologic examination and a neurodevelopmental assessment. RBC galactitol, RBC galactonate, RBC Gal-1-P, plasma galactose, plasma galactonate, and urine galactitol and galactonate concentrations were measured.
RBC galactitol and galactonate concentrations were about 2 and 6 times higher, respectively, than control values. Plasma galactose and galactitol concentrations were also about twice the control values. The mean values for RBC Gal-1-P and urine galactitol were within the reference interval. We found a relationship between plasma and urine galactitol concentrations but no relationship between RBC galactose metabolites and urine galactitol. There was a significant relationship between galactose intake and RBC galactose metabolites, especially RBC galactitol (P < 0.0005) and RBC galactonate (P < 0.0005). Galactose intake was not related to the urine galactitol, plasma galactose, or plasma galactitol concentration. RBC galactitol, RBC galactonate, plasma galactose, plasma galactitol, and urine galactonate concentrations showed no relationship with clinical or developmental outcomes.
DG children on a regular diet have RBC Gal-1-P concentrations within the reference interval but increased concentrations of other galactose metabolites, including RBC galactitol and RBC galactonate. These increased concentrations correlate with galactose intake and neither cause any developmental or clinical pathology during early childhood nor oblige a lactose-restricted diet.
在新生儿筛查计划中经常发现杜阿尔特半乳糖血症（DG）。DG 患者没有表现出经典半乳糖血症的症状，但他们是否需要限制饮食中的半乳糖仍存在争议。我们试图评估选定的半乳糖代谢物（血浆半乳糖、血浆半乳糖醇、红细胞（RBC）半乳糖醇、RBC 半乳糖酸盐、尿半乳糖醇和半乳糖酸盐）与 RBC 半乳糖-1-磷酸（Gal-1-P）、饮食中半乳糖摄入量以及 DG 儿童的神经发育/临床结局的关系。
我们研究了 30 名 1-6 岁患有 DG 半乳糖血症且饮食正常的儿童。所有参与者均接受了身体和眼科检查以及神经发育评估。测量 RBC 半乳糖醇、RBC 半乳糖酸盐、RBC Gal-1-P、血浆半乳糖、血浆半乳糖酸盐以及尿半乳糖醇和半乳糖酸盐浓度。
RBC 半乳糖醇和半乳糖酸盐浓度分别比对照值高约 2 倍和 6 倍。血浆半乳糖和半乳糖醇浓度也约为对照值的两倍。RBC Gal-1-P 和尿半乳糖醇的平均值均在参考区间内。我们发现血浆和尿半乳糖醇浓度之间存在相关性，但 RBC 半乳糖代谢物与尿半乳糖醇之间无相关性。半乳糖摄入量与 RBC 半乳糖代谢物，特别是 RBC 半乳糖醇（P <0.0005）和 RBC 半乳糖酸盐（P <0.0005）之间存在显著关系。半乳糖摄入量与尿半乳糖醇、血浆半乳糖或血浆半乳糖醇浓度无关。RBC 半乳糖醇、RBC 半乳糖酸盐、血浆半乳糖、血浆半乳糖醇和尿半乳糖酸盐浓度与临床或发育结局无相关性。
饮食正常的 DG 儿童 RBC Gal-1-P 浓度在参考区间内，但其他半乳糖代谢物（包括 RBC 半乳糖醇和 RBC 半乳糖酸盐）浓度升高。这些增加的浓度与半乳糖摄入量相关，在幼儿期不会引起任何发育或临床病理学变化，也不需要限制乳糖饮食。
