Screening of Galactosemia Heterozygote by the Analysis of Neonatal Urine using GC/MS

我们使用新开发的GC/MS筛查方法测定了4，338名5日龄新生儿的尿半乳糖和4-羟基苯乳酸。52名婴儿根据尿半乳糖水平升高（4.78-30.53mg/mg肌酐，对照组1.10±0.89mg/mg肌酐）被化学诊断为一过性半乳糖尿。这些婴儿没有将半乳糖醇或半乳糖酸排泄到尿液中，这是典型的遗传性半乳糖血症。近40%的短暂性糖尿与未成熟婴儿（低出生体重或在37孕周前出生）有关。肝功能不成熟是新生儿短暂性半乳糖尿的一种解释，但从新生儿和半乳糖血症患者之间的尿半乳糖和4 HPLA排泄的比较来看，在一些新生儿中也怀疑杂合子或半乳糖降解酶缺陷的携带者。

We determined urinary galactose and 4-hydroxyphenyllactic acid in 4,338 of 5-day-old newborns using a newly developed GC/MS screening method. Fifty-two infants were chemically diagnosed as having transient galactosuria based upon elevated urinary galactose levels (4.78-30.53mg/mg creatinine, control 1.10±0.89mg/mg creatinine). These infants did not excrete galactitol or galactonic acid into the urine, which is typical of hereditary galactosemia. Nearly 40% of the transient galactosuria was associated with immature infants (low birth weight or borne before 37 gestational weeks). Immature hepatic function is one explanation for neonatal transient galactosuria, but heterozygotes or the carriers of galactose degradation enzyme deficiencies were also suspected in some of the newborns, judging from the comparisons of urinary galactose and 4HPLA excretion between neonates and patients with galactosemia.