부산대학교 도서관

Introduction The aim of this study was to grade magnetic resonance white matter abnormalities (WMAs) of classical phenylketonuria (cPKU) patients treated from birth and to compare sensitivity and specificity of T2-weighted and diffusion-weighted images (DWI). Methods Twenty early-treated cPKU patients still on a low-phenylalanine diet (12 males mean age 21.2 years) and 26 normal subjects (ten males mean age 25.1 years) were enrolled. Typical T2- and diffusion-weighted WMAs were semiquantitatively graded according to Thompson score (TS). Besides, a regional magnetic resonance imaging (MRI) score (mTS) was developed according to extension and intensity of WMAs. Phenylalanine and tyrosine plasma concentrations before performing MRI and the amino acid mean levels collected the year before MRI (Tyr.sub.year and Phe.sub.year) were measured. Results No patient with Phe.sub.year concentration below 460 umol/L showed WMAs. In cPKU patients, TS and mTS were significantly higher on DWI than on T2 images (3.50 vs 2.65 and 23.65 vs 15.85, respectively, p Conclusion Among the different MR sequences, DWI seems to be the most sensitive and reliable in detecting and grading the typical WMAs of cPKU patients.