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Article

Overview of symptoms and treatment for lysinuric protein intolerance.

Journal of human genetics - 1 Sept 2019

Noguchi Atsuko, Takahashi Tsutomu

Abstract excerpt

Lysinuric protein intolerance (LPI) is caused by dysfunction of the dibasic amino acid membrane transport owing to the functional abnormality of y+L amino acid transporter-1 (y+ LAT-1). LPI is associated with autosomal recessive inheritance and pathological variants in the responsible gene SLC7A7 are also observed. The pathophysiology of this disease had earlier been understood as a transport defect in polarized...

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Identifiers

PMID: 31213652
DOI: 10.1038/s10038-019-0620-6

Genes

LAT
SLC7A7

Provenance

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