Blood blood phenylalanine (Phe), microstructural white matter integrity (evaluated by mean diffusivity from diffusion tensor imaging), and executive abilities were assessed in 12 PKU patients, known BH4 responders. Assessments were performed before initiation of treatment with BH4 (baseline) and repeated six months later (follow-up). Compared with baseline, Phe decreased by 51% during over four weeks since initiation of treatment and remained lowered by 37% during the remaining follow-up period (total 6 months). Significant improvements in white matter integrity, but not in executive abilities, were noted following six months of treatment.
White matter integrity and executive abilities following treatment with tetrahydrobiopterin in individuals with phenylketonuria. White DA, Antenor-Dorsey JA, Grange DK, Hershey T, Rutlin J, Shimony JS, McKinstry RC, Christ SE.Mol Genet Metab. 2013 Jul 19. PMID: 23928118
posted by Yannis Trakadis, MD