Quantitation of Phenylalanine in Dried Blood Spot Using Liquid Chromatography Tandem Mass Spectrometry for Monitoring of Patients with Phenylketonuria (PKU).
Document Type
Article
Publication Date
2022
Identifier
DOI: 10.1007/978-1-0716-2565-1_34
Abstract
Newborn screening for phenylketonuria (PKU) is performed by analysis of phenylalanine in dried blood spot (DBS). Once diagnosed by a definitive method, a patient's dietary control is performed by repeated analysis of phenylalanine in venous blood or DBS. Since venipuncture is time consuming, painful, and may often be difficult to achieve in newborns, the use of DBS for analysis of phenylalanine is becoming a preferred method for dietary monitoring of patients with PKU. Using a lancet, patients or their guardians collect finger capillary blood on an approved filter paper. Once collected, the filter paper with DBS is sent to the laboratory for phenylalanine analysis. In the laboratory, phenylalanine is extracted from the DBS using organic solvents. Here, we describe an LC-MS/MS method for the analysis of phenylalanine from DBS with an approximation to serum levels.
Journal Title
Methods in molecular biology (Clifton, N.J.)
Volume
2546
First Page
391
Last Page
399
MeSH Keywords
Chromatography, Liquid; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Solvents; Tandem Mass Spectrometry
Keywords
DBS; Dried blood spot; Filter paper; PKU; Phenylalanine
Recommended Citation
Baird S, Clinton Frazee C 3rd, Garg U. Quantitation of Phenylalanine in Dried Blood Spot Using Liquid Chromatography Tandem Mass Spectrometry for Monitoring of Patients with Phenylketonuria (PKU). Methods Mol Biol. 2022;2546:391-399. doi:10.1007/978-1-0716-2565-1_34
COinS
