Article
Clinical and genetic features of lysinuric protein intolerance in Japan.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Oct 2016
Noguchi Atsuko, Nakamura Kimitoshi, Murayama Kei, Yamamoto Shigenori, Komatsu Hiroshi, Kizu Rika, Takayanagi Masaki, Okuyama Torayuki, Endo Fumio, Takasago Yuhei, Shoji Yutaka, Takahashi Tsutomu
Abstract excerpt
BACKGROUND: Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder affecting the transport of cationic amino acid caused by mutations in solute carrier family 7 amino acid transporter light chain, y+ L system, member 7 (SLC7A7). This disorder occurs worldwide, especially in Finland and Japan, where founder effect mutations have been reported. Detailed features of the clinical symptoms and...
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