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Simultaneous quantitative estimation of galactose-1-phosphate and galactose in blood for the diagnosis of galactosemia.

作者信息

Fujimura Y, Kawamura M, Naruse H

出版信息

Tohoku J Exp Med. 1982 Jul;137(3):289-95. doi: 10.1620/tjem.137.289.

DOI:10.1620/tjem.137.289
PMID:7112550
Abstract

A new microfluorometrical simultaneous assay method of galactose-1-phosphate and galactose in blood discs was devised by use of alkaline phosphatase and beta-galactose dehydrogenase. Our method statistically corresponded well with the Kirkman's method. It can detect 1 X 10(-10) mole of minimal concentration of galactose-1-phosphate and galactose in one blood disc paper (3 mm in diameter), and this means the sensitivity of assay of galactose-1-phosphate was 0.1 mg%. Assay range in our method was very broad (0-2 mM or 0-10 mM). The accuracy and reproducibility of galactose-1-phosphate assay were 3.4 +/- 0.1 mg%, 8.0 +/- 0.4 mg% or 15.1 +/- 0.6 mg%. Mean values of galactose-1-phosphate and galactose in blood on normal infants were 0.8 mg% and 0.3 mg%, respectively. We applied this method to mass screening of galactosemia and could accurately distinguish many positive and false positive cases detected by Paigen's and Beutler's methods. This method gave us an easy and accurate assay system for the diagnosis of uridyl transferase and galactokinase deficiencies.

摘要

相似文献

1
Simultaneous quantitative estimation of galactose-1-phosphate and galactose in blood for the diagnosis of galactosemia.
Tohoku J Exp Med. 1982 Jul;137(3):289-95. doi: 10.1620/tjem.137.289.
2
Microassay for estimation of galactose and galactose-1-phosphate in dried blood specimens.
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Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study.采用串联质谱法通过对单磷酸己糖进行定量分析对新生儿进行半乳糖血症筛查:一项回顾性研究。
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Colorimetric determination of galactose and galactose-1-phosphate from dried blood.用比色法测定干血中的半乳糖和1-磷酸半乳糖。
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A new method of blood galactose estimation for mass screening of galactosemia.一种用于半乳糖血症大规模筛查的血液半乳糖估计新方法。
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A new method of screening for inherited disorders of galactose metabolism.一种筛查半乳糖代谢遗传性疾病的新方法。
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Clinical significance of plasma galactose and erythrocyte galactose-1-phosphate measurements in transferase-deficient galactosemia and in individuals with below-normal transferase activity.血浆半乳糖和红细胞1-磷酸半乳糖测量在转移酶缺乏型半乳糖血症及转移酶活性低于正常水平个体中的临床意义。
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[Clinical and biochemical diagnosis of galactosemia among our cases].[我们病例中半乳糖血症的临床与生化诊断]
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[Galactose 1-phosphate level in children with various types of hexosephosphate uridylyltransferase deficiency].[不同类型磷酸己糖尿苷酰转移酶缺乏症患儿的1-磷酸半乳糖水平]
Pediatr Pol. 1985 Sep;60(9):631-7.

引用本文的文献

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Prediction of Congenital Portosystemic Shunt in Neonatal Hypergalactosemia Using Gal-1-P/Gal Ratio, Bile Acid, and Ammonia.利用Gal-1-P/半乳糖比值、胆汁酸和氨预测新生儿高半乳糖血症中的先天性门体分流。
Int J Neonatal Screen. 2025 Aug 7;11(3):61. doi: 10.3390/ijns11030061.
2
Results of newborn screening for galactose metabolic disorders.半乳糖代谢紊乱的新生儿筛查结果。
J Inherit Metab Dis. 1990;13(1):93-101. doi: 10.1007/BF01799336.