Department of Pediatrics, Medical College and Hospital, 88, College Street, Kolkata, India.
Indian J Pediatr. 2010 Aug;77(8):909-10. doi: 10.1007/s12098-010-0135-9. Epub 2010 Aug 20.
Galactosemia is caused by inherited deficiencies in one of three enzymes involved in the metabolism of galactose: galactose-1-phosphate uridyltransferase (GALT), galactokinase (GALK), and uridine diphosphate galactose-4-epimerase (GALE). The rarest and most poorly understood form of galactosemia is due to epimerase deficiency. We are reporting such a rarest form of galactosemia presenting with progressively increasing cholestatic jaundice and failure to thrive at one month of age. After confirmation of decreased epimerase level in RBC hemolysate, the patient was put on galactose restricted diet and vitamins supplementation, which reversed the clinical signs as well as altered liver function. Patient is on regular follow-up and now at 15 months of age he has no marked developmental delay.
半乳糖-1-磷酸尿苷酰转移酶（GALT）、半乳糖激酶（GALK）和尿苷二磷酸半乳糖-4-差向异构酶（GALE）。半乳糖血症中最罕见和最不被理解的形式是由于差向异构酶缺乏引起的。我们报告了一种最罕见的半乳糖血症形式，其特征是在一个月大时出现进行性增加的胆汁淤积性黄疸和生长不良。在确认 RBC 溶血物中差向异构酶水平降低后，患者接受了半乳糖限制饮食和维生素补充治疗，这逆转了临床症状以及肝功能的改变。患者正在定期随访，现在他已经 15 个月大了，没有明显的发育迟缓。
