【摘 要】
：
Classical Galactosaemia (GAL) is an autosomal recessive disorder of carbohydrate metabolism caused by deficiency of Galactose-1-phosphate uridyltransferase (GALT).Despite being a single gene defect, c
【机 构】
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The Royal Children's Hospital Australia
【出 处】
：
2013第三届内分泌与代谢大会暨2013第二届糖尿病大会
论文部分内容阅读
Classical Galactosaemia (GAL) is an autosomal recessive disorder of carbohydrate metabolism caused by deficiency of Galactose-1-phosphate uridyltransferase (GALT).Despite being a single gene defect, clinicians and researchers alike have identified multiple points of clinical, biochemical, epigenetic and radiological abnormalities.Although restriction of galactose alleviates the newborn symptoms of toxicity, multiple studies have reported long-term complications including cognitive dysfunction, neurological impairment, tremor, white matter hypomyelination verbal dyspraxia, osteoporosis, and hypergonadotrophic hypogonadism in females.
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