Defective SLC7A7 causes lysinuric protein intolerance (LPI)

Stable Identifier
R-HSA-5660862
Type
Pathway
Species
Homo sapiens
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SLC7A7 encodes the y+L amino acid transporter 1 (y+LAT1). As a heterodimer with SLC3A2 in the plasma membrane, SLC7A7 mediates the exchange of arginine (L-Arg) for leucine (L-Leu) and a sodium ion (Na+). The physiological concentrations of arginine and leucine are expected to favor arginine export (Schweikhard & Ziegler 2012). Defects in SLC7A7 can cause Lysinuric protein intolerance (LPI; MIM:222700), a metabolic disorder characterised by decreased cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in the intestine and kidney, increased renal excretion of CAA and orotic aciduria. There is extreme variability clinically but typical symptoms include refusal to feed, vomiting and consequent failure to thrive. Hepatosplenomegaly, hematological anomalies and neurological involvement are recurrent clinical features (Sperandeo et al. 2008, Sebastio et al. 2011).

Literature References
PubMed ID Title Journal Year
23177982 Amino acid secondary transporters: toward a common transport mechanism

Schweikhard, ES, Ziegler, CM

Curr Top Membr 2012
17764084 Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene

Sperandeo, MP, Andria, G, Sebastio, G

Hum. Mutat. 2008
21308987 Lysinuric protein intolerance: reviewing concepts on a multisystem disease

Sebastio, G, Sperandeo, MP, Andria, G

Am J Med Genet C Semin Med Genet 2011
Participants
Participates
Disease
Name Identifier Synonyms
amino acid metabolic disorder DOID:9252 inborn errors of amino acid metabolism
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BioModels Database
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