Ng W G, Xu Y K, Kaufman F R, Donnell G N
Department of Pediatrics, University of Southern California School of Medicine, Los Angeles.
J Inherit Metab Dis. 1989;12(3):257-66. doi: 10.1007/BF01799215.
The levels of uridine diphosphate galactose (UDPGal) and uridine diphosphate glucose (UDPGlc) have been determined in liver autopsy samples, erythrocytes and cultured skin fibroblasts from galactosaemic patients and compared to non-galactosaemic controls. In patients with undetectable erythrocyte galactose-1-phosphate uridyltransferase (transferase) activity, the levels of UDPGal were substantially lower than in controls. In patients with detectable transferase activity, even though in less than 1% of normal values, both UDPGal and UDPGlc levels were in the normal range. Incubation of erythrocytes from both galactosaemic patients and normal individuals with 10 mmol/L uridine increased UDPGal and UDPGlc levels several-fold, both in the presence or absence of galactose in the incubation medium. We hypothesize that a deficit of UDPGal is responsible for the late onset clinical manifestations in galactosaemia which include ovarian failure, speech defect and neurological abnormalities. We suggest that uridine administration may be of therapeutic value in raising the intracellular concentrations of UDPGal. We conclude that the transferase reaction, however small in activity, is essential for optimal UDPGal formation.
已测定半乳糖血症患者肝脏尸检样本、红细胞和培养的皮肤成纤维细胞中尿苷二磷酸半乳糖（UDPGal）和尿苷二磷酸葡萄糖（UDPGlc）的水平，并与非半乳糖血症对照进行比较。在红细胞半乳糖-1-磷酸尿苷转移酶（转移酶）活性检测不到的患者中，UDPGal水平显著低于对照组。在转移酶活性可检测到的患者中，尽管低于正常值的1%，但UDPGal和UDPGlc水平均在正常范围内。半乳糖血症患者和正常个体的红细胞在含有10 mmol/L尿苷的培养基中孵育，无论孵育培养基中是否存在半乳糖，UDPGal和UDPGlc水平均增加数倍。我们推测，UDPGal缺乏是半乳糖血症晚期临床表现的原因，这些表现包括卵巢功能衰竭、言语缺陷和神经异常。我们建议，给予尿苷可能对提高细胞内UDPGal浓度具有治疗价值。我们得出结论，转移酶反应尽管活性很小，但对于最佳UDPGal形成至关重要。
