Neurocognitive outcome and mental health in children with Tyrosinemia type 1 and Phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, Santra S, De Laet C, Goyens PJ, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Gissen P, Bierau J, van Hasselt PM, Wilcox G, Morris AAM, Jameson EA, de la Parra A, Arias C, Garcia MI, Cornejo V, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ, van Spronsen FJ
Journal of inherited metabolic disease, 2022 Jun 20
Abstract
Tyrosinemia type 1 (TT1) and phenylketonuria (PKU) are both inborn errors of phenylalanine-tyrosine metabolism. Neurocognitive and behavioral outcomes have always featured in PKU research but received less attention in TT1 research. This study aimed to investigate and compare neurocognitive, behavioral and social outcomes of treated TT1 and PKU patients.