LAT1 gene variants--potential factors influencing the clinical course of phenylketonuria.

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Brain
• Share to Genetic Variation
• Share to Mutation