title: A pulsed amperometric detection method of galactose 1-phosphate for galactosemia diagnosis.
abstract: Galactose 1-phosphate uridyltransferase deficiency causes the accumulation of galactose and galactose 1-phosphate (Gal 1-P) in the blood. We describe a new pulsed amperometric detection method for determining Gal 1-P levels as a pathognomic marker for the diagnosis of galactosemia. The method uses high-performance anion-exchange chromatography with pulsed amperometric detection. In an anion-exchange column, the analytes were separated in 5 min by the eluent mixture of 40 mM NaOH and 40 mM Na(2)CO(3). The detection limit (signal to noise ratio of 3) to Gal 1-P was 30 microg/dL. The linear dynamic range was 3.0-50 mg/dL (r(2)=0.9999). The mean recoveries of Gal 1-P for intra- and interday assays were 97.55-103.78%. This method clearly separated the type I galactosemia patients from the normal group and is a practical procedure for the rapid diagnosis of galactosemia.
authors: Department of Oriental Pharmaceutical Sciences and Kyung Hee East-West Pharmaceutical Research Institute, College of Pharmacy, Kyung Hee University, 1 Hoegi-dong, Dongdaemoon-gu, Seoul 130-701, South Korea.
authors: Ji-Seon
authors: JS
authors: Jeong
authors: Ha-Jeong
authors: HJ
authors: Kwon
authors: Hye-Ran
authors: HR
authors: Yoon
authors: Yong-Moon
authors: YM
authors: Lee
authors: Tae-Youn
authors: TY
authors: Choi
authors: Seon-Pyo
authors: SP
authors: Hong
mesh_terms: D000328:Adult; D000837:Anion Exchange Resins / Q000737:chemistry; D002254:Carbonates / Q000737:chemistry; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D004563:Electrochemistry / Q000379:methods*; D005693:Galactosemias / Q000097:blood / Q000175:diagnosis*; D005695:Galactosephosphates / Q000097:blood* / Q000737:chemistry / Q000592:standards; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D012972:Sodium Hydroxide / Q000737:chemistry
chemical_list: D000837:Anion Exchange Resins; D002254:Carbonates; D005695:Galactosephosphates; C029973:galactose-1-phosphate; C005686:sodium carbonate; D012972:Sodium Hydroxide