Simultaneous diagnostic method for phenylketonuria and galactosemia from dried blood spots using high-performance liquid chromatography-pulsed amperometric detection.
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.
Kim
Nam-Hee
NH
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.
Jeong
Ji-Seon
JS
Kwon
Ha-Jeong
HJ
Lee
Yong-Moon
YM
Yoon
Hye-Ran
HR
Lee
Kyoung Ryul
KR
Hong
Seon-Pyo
SP
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*