Table 1 Biochemical characteristics and PAH mutations in Korean patients with PKU. Abbreviations: NI, Not informed; PKU, Phenylketonuria; MHP, Mild hyperphenylalaninemia ^aNBS blood spots, reference range: 19-164 µM; ^bReference range: < 2.0; ^cPlasma phenylalanine concentration was measured before starting a phenylalanine-restricted diet, Reference range : 54.9-103.1 µM; ^dReference range : 0.05-0.19 µM

From: Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria