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

ABSTRACT: 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.

SUBMITTER: Bik-Multanowski M

PROVIDER: S-EPMC8040326 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature

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The rs113883650 variant of <i>SLC7A5 (LAT1)</i> gene may alter brain phenylalanine content in PKU.

Bik-Multanowski Miroslaw M Bik-Multanowska Kinga K Betka Iwona I Madetko-Talowska Anna A

Molecular genetics and metabolism reports 20210331

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 <i>SLC7A5 (LAT1)</i> 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 phenyl ...[more]

PMID: 33868932

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