Lysinuric protein intolerance

Definition:

Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. Patients affected by this disorder, in general, come to medical attention from early on in life with several significant problems including failure to thrive and intellectual impairment. 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.

References:

[1]. Gianfranco Sebastio, et al. Lysinuric protein intolerance: reviewing concepts on a multisystem disease. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):54-62. [Content Brief]

[2]. Maria Pia Sperandeo, et al. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. Hum Mutat. 2008 Jan;29(1):14-21. [Content Brief]

[3]. S M R Camargo, et al. Aminoacidurias: Clinical and molecular aspects. Kidney Int. 2008 Apr;73(8):918-25. [Content Brief]

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