Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance

1997 ◽  
Vol 100 (1) ◽  
pp. 80-83 ◽  
Author(s):  
T. Lauteala ◽  
Nina Horelli-Kuitunen ◽  
Ellen Closs ◽  
Marja-Liisa Savontaus ◽  
Mari Lukkarinen ◽  
...  
Keyword(s):  
Amino Acid ◽  
Amino Acid Transporter ◽  
Cationic Amino Acid Transporter ◽  
Transporter Gene ◽  
Lysinuric Protein Intolerance ◽  
Causative Gene ◽  
Cationic Amino Acid ◽  
Lysinuric Protein ◽  
Protein Intolerance ◽  
Amino Acid Transporter Gene

scholarly journals Molecular Sites of Regulation of Expression of the Rat Cationic Amino Acid Transporter Gene

1996 ◽  
Vol 271 (47) ◽  
pp. 29799-29806 ◽  
Author(s):  
Kulwant S. Aulak ◽  
Jinbo Liu ◽  
Jinyun Wu ◽  
Susannah L. Hyatt ◽  
Monica Puppi ◽  
...  
Keyword(s):  
Amino Acid ◽  
Amino Acid Transporter ◽  
Cationic Amino Acid Transporter ◽  
Transporter Gene ◽  
Regulation Of Expression ◽  
Cationic Amino Acid ◽  
Acid Transporter ◽  
Amino Acid Transporter Gene

scholarly journals Interactions of y+LAT1 and 4F2hc in the y+l amino acid transporter complex: consequences of lysinuric protein intolerance-causing mutations

2013 ◽  
Vol 32 (04) ◽  
pp. 479-488 ◽  
Author(s):  
Minna Toivonen, ◽  
Maaria Tringham ◽  
Johanna Kurko ◽  
Perttu Terho ◽  
Olli Simell ◽  
...  
Keyword(s):  
Amino Acid ◽  
Amino Acid Transporter ◽  
Lysinuric Protein Intolerance ◽  
Lysinuric Protein ◽  
Acid Transporter ◽  
Protein Intolerance

Lysinuric Protein Intolerance and Hartnup Disease

2016 ◽  
Author(s):  
Gianfranco Sebastio ◽  
Manuel Schiff ◽  
Hélène Ogier de Baulny
Keyword(s):  
Amino Acid ◽  
Renal Disease ◽  
Chronic Renal Disease ◽  
Basolateral Membrane ◽  
Neurological Involvement ◽  
Lysinuric Protein Intolerance ◽  
Cationic Amino Acid ◽  
Transporter Family ◽  
Lysinuric Protein ◽  
Protein Intolerance

Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. LPI is caused by mutations in the SLC7A7 gene, which encodes the y+LAT-1 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family. Symptoms usually begin after weaning with refusal of feeding, vomiting, and consequent failure to thrive. Hepatosplenomegaly, hematological anomalies, and neurological involvement including hyperammonemic coma will progressively appear. Lung involvement (specifically pulmonary alveolar proteinosis), chronic renal disease that may lead to end stage renal disease, and hemophagocytic lymphohistiocytosis with macrophage activation all represent complications of LPI that may appear at any time from childhood to adulthood. The great variability of the clinical presentation frequently causes misdiagnosis or delayed diagnosis. The basic therapy of LPI consist of a low-protein diet, low-dose citrulline supplementation, nitrogen-scavenging compounds to prevent hyperammonemia, lysine, and carnitine supplements.

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