Berry G T, Nissim I, Lin Z, Mazur A T, Gibson J B, Segal S
Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA.
Lancet. 1995 Oct 21;346(8982):1073-4. doi: 10.1016/s0140-6736(95)91745-4.
Despite restricted ingestion of lactose, patients with galactose-1-phosphate uridyltransferase deficiency have raised concentrations of galactose metabolites in blood and urine. Endogenous production of galactose may underlie this phenomenon. Using isotopically labelled galactose in a continuous intravenous infusion, we employed the steady-state flux method to calculate endogenous galactose production rate in three normal men and three patients with classic galactosaemia. We found that galactosaemic patients and normal subjects synthesise gram quantities of galactose per day. The rate of synthesis ranged from 0.53-1.05 mg/kg per h. Endogenous production of galactose may be an important factor in the pathogenesis of the complications of the brain and ovary, and could explain the persistent elevation of galactose metabolites in patients despite dietary restriction of galactose.
尽管乳糖摄入受限，但1-磷酸半乳糖尿苷转移酶缺乏症患者血液和尿液中的半乳糖代谢物浓度仍会升高。内源性半乳糖生成可能是这一现象的原因。我们通过连续静脉输注同位素标记的半乳糖，采用稳态通量法计算了三名正常男性和三名经典半乳糖血症患者的内源性半乳糖生成率。我们发现，半乳糖血症患者和正常受试者每天都会合成克级数量的半乳糖。合成速率为每小时0.53 - 1.05毫克/千克。内源性半乳糖生成可能是脑部和卵巢并发症发病机制中的一个重要因素，并且可以解释尽管对患者进行了半乳糖饮食限制，但其体内半乳糖代谢物仍持续升高的现象。
