Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods.

Abstract

Blood phenylalanine monitoring is critical for the management of phenylketonuria. We compared three methods for measuring blood phenylalanine concentration: the amino acid analyzer, high-performance liquid chromatography with fluorometric detection, and tandem mass spectrometry. We studied 22 female patients with phenylketonuria, ages 12-48 years, who attended our Metabolic Camp. Blood was collected into heparinized tubes (for analysis by the amino acid analyzer) or filter paper (for analysis by high-performance liquid chromatography with fluorometric detection and tandem mass spectrometry). Blood phenylalanine concentrations of plasma measured by the amino acid analyzer were significantly higher than those obtained from whole blood on filter paper by high-performance liquid chromatography (difference: 102 microM; 95% confidence interval: 23, 181) and tandem mass spectrometry (difference: 137 microM; 95% confidence interval: 58, 216). Phenylalanine concentrations from high-performance liquid chromatography and tandem mass spectrometry were not significantly different (P = 0.5). When monitoring blood phenylalanine concentrations for dietary compliance, clinicians should be mindful of the method being used; analyses of whole blood on filter paper were consistently approximately 15% lower than analyses of plasma.