| H00899 | |
| H番号 | H00899 |
| 名称 | リジン尿性蛋白不耐症 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | SLC7A7 [HSA:9056] [KO:K13867] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | L-アルギニン塩酸塩 [DR:D01126] L-アルギニン・L-アルギニン塩酸塩 [DR:D08754] |
| コメント | - |
| リンク | ICD-11: 5C60.Y ICD-10: E72.0 MeSH: C562687 OMIM: 222700 |
| 文献 | PMID:18200002 著者 Camargo SM, Bockenhauer D, Kleta R タイトル Aminoacidurias: Clinical and molecular aspects. 雑誌 Kidney Int 73:918-25 (2008) DOI:10.1038/sj.ki.5002790 PMID:21308987 著者 Sebastio G, Sperandeo MP, Andria G タイトル Lysinuric protein intolerance: reviewing concepts on a multisystem disease. 雑誌 Am J Med Genet C Semin Med Genet 157:54-62 (2011) DOI:10.1002/ajmg.c.30287 PMID:17764084 著者 Sperandeo MP, Andria G, Sebastio G タイトル Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. 雑誌 Hum Mutat 29:14-21 (2008) DOI:10.1002/humu.20589 |