The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU

Functional alteration of the LAT1 amino acid transporter may be responsible for interindividual differences in cerebral phenylalanine content and the lack of intellectual disability in some patients with untreated phenylketonuria. We assessed the effect of the common variant rs113883650 of the SLC7A...

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Detalles Bibliográficos
Autores principales: Bik-Multanowski, Miroslaw, Bik-Multanowska, Kinga, Betka, Iwona, Madetko-Talowska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8040326/
https://www.ncbi.nlm.nih.gov/pubmed/33868932
http://dx.doi.org/10.1016/j.ymgmr.2021.100751
Descripción
Sumario:Functional alteration of the LAT1 amino acid transporter may be responsible for interindividual differences in cerebral phenylalanine content and the lack of intellectual disability in some patients with untreated phenylketonuria. We assessed the effect of the common variant rs113883650 of the SLC7A5 (LAT1) gene on brain phenylalanine content, as measured with use of magnetic resonance spectroscopy. Our results suggest that the presence of this variant could influence the amount of phenylalanine in the brain.

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