caa a22 4500 467933731 CHVBK 20180406152950.0 cr unu---uuuuu 170328e20061001xx s 000 0 eng 10.1007/s10545-006-0285-0 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0285-0 LAT1 gene variants—potential factors influencing the clinical course of phenylketonuria [Elektronische Daten] [Miroslaw Bik-Multanowski, Jacek Pietrzyk] Summary: The LAT1 amino acid exchanger is responsible for phenylalanine transport across the blood-brain barrier. As phenylalanine excess in the brain leads to mental retardation in untreated patients with phenylketonuria, mutations of the LAT1 gene can be responsible for milder clinical manifestations (lower brain toxicity of hyperphenylalaninaemia) observed in some patients. The aim of this study was to screen for LAT1 gene mutations in phenylketonuric patients. Within the coding sequence of the gene, three polymorphism and one new mutation (G41D) were detected. The protein sequence change due to the mutation described could influence the clinical course of phenylketonuria. SSIEM and Springer, 2006 Bik-Multanowski Miroslaw Department of Pediatrics, Jagiellonian University, Krakow, Poland aut Pietrzyk Jacek Department of Pediatrics, Jagiellonian University, Krakow, Poland aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/5(2006-10-01), 684-684 0141-8955 29:5<684 2006 29 10545 https://doi.org/10.1007/s10545-006-0285-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0285-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Bik-Multanowski Miroslaw Department of Pediatrics, Jagiellonian University, Krakow, Poland aut NATIONALLICENCE 700 1- Pietrzyk Jacek Department of Pediatrics, Jagiellonian University, Krakow, Poland aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/5(2006-10-01), 684-684 0141-8955 29:5<684 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer