title: Simultaneous diagnostic method for phenylketonuria and galactosemia from dried blood spots using high-performance liquid chromatography-pulsed amperometric detection.
abstract: We developed a simultaneous diagnostic method for phenylketonuria (PKU) and galactosemia through simultaneous determination of phenylalanine (Phe) and galactose (Gal) by high-performance liquid chromatography (HPLC) with pulsed amperometric detection (PAD). The intra- and inter-day precisions were <5.8%, with satisfactory mean recoveries (98.2-105%). For all PKU-positive samples, Phe levels were above the cut-off value (>30.0 mg/L), but Gal levels were nearly zero. For 77% of galactosemia-positive samples, Phe levels were above the cut-off value, but Gal levels were above the cut-off value (>80.0 mg/L) for all samples. Our HPLC-PAD method can reduce the false-positive rate of misdiagnosis for PKU and galactosemia.
authors.affiliation: Department of Oriental Pharmaceutical Sciences, Kyung Hee East-West Pharmaceutical Research Institute, College of Pharmacy, Kyung Hee University, Hoegi-dong, Dongdaemoon-gu, Seoul 130-701, South Korea.
authors.forename: Nam-Hee
authors.initials: NH
authors.lastname: Kim
authors.forename: Ji-Seon
authors.initials: JS
authors.lastname: Jeong
authors.forename: Ha-Jeong
authors.initials: HJ
authors.lastname: Kwon
authors.forename: Yong-Moon
authors.initials: YM
authors.lastname: Lee
authors.forename: Hye-Ran
authors.initials: HR
authors.lastname: Yoon
authors.forename: Kyoung Ryul
authors.initials: KR
authors.lastname: Lee
authors.forename: Seon-Pyo
authors.initials: SP
authors.lastname: Hong
mesh_terms: D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D005189:False Positive Reactions; D005693:Galactosemias / Q000097:blood*; D006801:Humans; D007231:Infant, Newborn; D016014:Linear Models; D015997:Neonatal Screening / Q000379:methods*; D010661:Phenylketonurias / Q000097:blood*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D013048:Specimen Handling / Q000379:methods*