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(year) and Phe(year)) were measured. RESULTS: No patient with Phe(year) concentration below 460 mumol/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 < 0.002, Wilcoxon test). All controls were scored 0 on DWI, while in T2 images, TS and mTS were 0.19 and 1.70. DWI evaluated by mTS disclosed a frontotemporal, occipital, and parietal WM progressive involvement. TS and mTS, both on T2 images and on DWI, showed no correlation with tyrosine while they proved to have a strong correlation with phenylalaninemia and an excellent one with Phe(year) levels. 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.
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(year) and Phe(year)) were measured. RESULTS: No patient with Phe(year) concentration below 460 mumol/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 < 0.002, Wilcoxon test). All controls were scored 0 on DWI, while in T2 images, TS and mTS were 0.19 and 1.70. DWI evaluated by mTS disclosed a frontotemporal, occipital, and parietal WM progressive involvement. TS and mTS, both on T2 images and on DWI, showed no correlation with tyrosine while they proved to have a strong correlation with phenylalaninemia and an excellent one with Phe(year) levels. 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.
Authors: Peter J Anderson; Stephen J Wood; Dorothy E Francis; Lee Coleman; Vicki Anderson; Avihu Boneh Journal: Dev Neuropsychol Date: 2007 Impact factor: 2.253
Authors: V Leuzzi; M Tosetti; D Montanaro; C Carducci; C Artiola; C Carducci; I Antonozzi; M Burroni; F Carnevale; F Chiarotti; T Popolizio; G M Giannatempo; V D'Alesio; T Scarabino Journal: J Inherit Metab Dis Date: 2007-01-23 Impact factor: 4.750
Authors: Sashiprabha M Vithanarachchi; Casey D Foley; Sarah Trimpin; James R Ewing; Meser M Ali; Matthew J Allen Journal: Contrast Media Mol Imaging Date: 2016-09-06 Impact factor: 3.161
Authors: Desiree A White; Lisa Tabor Connor; Binyam Nardos; Joshua S Shimony; Rebecca Archer; Abraham Z Snyder; Asif Moinuddin; Dorothy K Grange; Robert D Steiner; Robert C McKinstry Journal: Mol Genet Metab Date: 2010 Impact factor: 4.797
Authors: Anna Hood; Jo Ann V Antenor-Dorsey; Jerrel Rutlin; Tamara Hershey; Joshua S Shimony; Robert C McKinstry; Dorothy K Grange; Shawn E Christ; Robert Steiner; Desiree A White Journal: Mol Genet Metab Date: 2014-11-13 Impact factor: 4.797
Authors: Jo Ann V Antenor-Dorsey; Tamara Hershey; Jerrel Rutlin; Joshua S Shimony; Robert C McKinstry; Dorothy K Grange; Shawn E Christ; Desirée A White Journal: Mol Genet Metab Date: 2013-04-06 Impact factor: 4.797
Authors: A M J van Wegberg; A MacDonald; K Ahring; A Bélanger-Quintana; N Blau; A M Bosch; A Burlina; J Campistol; F Feillet; M Giżewska; S C Huijbregts; S Kearney; V Leuzzi; F Maillot; A C Muntau; M van Rijn; F Trefz; J H Walter; F J van Spronsen Journal: Orphanet J Rare Dis Date: 2017-10-12 Impact factor: 4.123
Authors: Leo M J de Sonneville; Stephan C J Huijbregts; Robert Licht; Joseph A Sergeant; Francjan J van Spronsen Journal: J Inherit Metab Dis Date: 2011-05-04 Impact factor: 4.982