Classical galactosaemia revisited
Classical galactosaemia revisited
复制标题
DOI：
10.1007/s10545-006-0382-0
复制
发表时间：
2006-08-01
影响因子：
4.2
通讯作者：
Bosch, Annet M.
中科院分区：
文献类型：
--
作者：
Bosch, Annet M.
经典的半乳糖血症(McKusick 230400)是一种常染色体隐性半乳糖代谢紊乱，由半乳糖-1-磷酸尿苷转移酶(GALT；EC 2.7.712)缺乏引起。大多数患者出现在新生儿期，在摄入半乳糖后，伴有黄疸、肝脾肿大、肝细胞功能不全、食物不耐受、低血糖、肾小管功能障碍、肌肉低张症、败血症和白内障。诊断典型的半乳糖血症的金标准是测量红细胞中的GALT活性。尿糖和糖醇的气相色谱测定显示半乳糖和半乳糖醇浓度升高。对于典型的半乳糖缺乏症患者，唯一的治疗方法是限制半乳糖饮食，一旦诊断可疑，必须立即从饮食中去除所有半乳糖。新生儿期过后，大多数国家建议采用无乳糖饮食，不限制吃含半乳糖的水果和蔬菜。尽管有严格的饮食，但经典型的半乳糖血症患者经常会出现长期的并发症，如智力发育迟缓、言语障碍、运动异常和高促性腺激素减退症。有人认为，这些并发症可能是内源性半乳糖合成或异常半乳糖基化所致。应开发新的治疗策略，以防止1-磷酸半乳糖的产生。与此同时，对GALT缺乏症患者的后续方案应侧重于早期发现、评估，如果可能的话，对运动、语言和认知发育问题进行早期干预。
Classical galactosaemia (McKusick 230400) is an: autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT; EC 2.7.712). Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycaemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. The gold standard for diagnosis of classical galactosaemia is measurement of GALT activity in erythrocytes. Gas-chromatographic determination of urinary sugars and sugar alcohols demonstrates elevated concentrations of galactose and galactitol. The only therapy for patients with classical galactosaemia is a galactose-restricted diet, and initially all galactose must be removed from the diet as soon as the diagnosis is suspected. After the neonatal period, a lactose-free diet is advised in most countries, without restriction of galactose-containing fruit and vegetables. In spite of the strict diet, long-term complications such as retarded mental development, verbal dyspraxia, motor abnormalities and hypergonadotrophic hypogonadism are frequently seen in patients with classical galactosaemia. It has been suggested that these complications may result from endogenous galactose synthesis or from abnormal galactosylation. Novel therapeutic strategies, aiming at the prevention of galactose 1-phosphate production, should be developed. In the meantime, the follow-up protocol for patients with GALT deficiency should focus on early detection, evaluation and, if possible, early intervention in problems of motor, speech and cognitive development.