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Article

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

Journal of inherited metabolic disease - 1 Oct 2006

Bik-Multanowski Miroslaw, Pietrzyk Jacek J

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 (l...

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Identifiers

PMID: 16972176
DOI: 10.1007/s10545-006-0285-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16972176-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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