Article
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families.
Human mutation - 1 Jan 2000
Noguchi A, Shoji Y, Koizumi A, Takahashi T, Matsumori M, Kayo T, Ohata T, Wada Y, Yoshimura I, Maisawa S, Konishi M, Takasago Y, Takada G
Abstract excerpt
Lysinuric protein intolerance (LPI) is a rare inherited disease caused by defective transport of the dibasic amino acids at the basolateral membranes of epithelial cells in the renal tubules and small intestine. The metabolic defect leads to brain dysfunction caused by hyperammonemia with a functional impairment of the urea cycle. Recently, mutations in the human SLC7A7 cDNA coding for y(+)LAT-1, which express...
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