Szczypka M
Zakład Biochemii Instytutu Matki i Dziecka w Warszawie.
Pediatr Pol. 1996 Jun;71(6):487-92.
Classical galactosemia is an inherited metabolic disease that results from galactose-1-phosphate uridyltransferase deficiency. Untreated galactosemia has various manifestations, including central nervous system damage, hepatic failure, cataract. Galactose-restricted dietary treatment, the only therapy used in galactosemia, brings considerable improvement, especially in the neonatal period. However, in the most galactosemic patients this treatment does not prevent development of late-onset complications; mental retardation, ovarian failure and neurologic disturbances. This article presents a review of contemporary hypotheses on possible factors influencing the outcome in galactosemia, especially in regard to late-onset complications.
经典型半乳糖血症是一种遗传性代谢疾病，由1-磷酸半乳糖尿苷转移酶缺乏引起。未经治疗的半乳糖血症有多种表现，包括中枢神经系统损伤、肝功能衰竭、白内障。限制半乳糖饮食治疗是半乳糖血症唯一使用的疗法，能带来显著改善，尤其是在新生儿期。然而，对于大多数半乳糖血症患者，这种治疗并不能预防迟发性并发症的发生；如智力发育迟缓、卵巢功能衰竭和神经功能障碍。本文综述了关于影响半乳糖血症预后的可能因素的当代假说，特别是关于迟发性并发症方面。
