| H00899 | |
| H number | H00899 |
| Name | Lysinuric protein intolerance |
| Description | 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. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | SLC7A7 [HSA:9056] [KO:K13867] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C60.Y ICD-10: E72.0 MeSH: C562687 OMIM: 222700 |
| Reference | PMID:18200002 AUTHORS Camargo SM, Bockenhauer D, Kleta R TITLE Aminoacidurias: Clinical and molecular aspects. JOURNAL Kidney Int 73:918-25 (2008) DOI:10.1038/sj.ki.5002790 PMID:21308987 AUTHORS Sebastio G, Sperandeo MP, Andria G TITLE Lysinuric protein intolerance: reviewing concepts on a multisystem disease. JOURNAL Am J Med Genet C Semin Med Genet 157:54-62 (2011) DOI:10.1002/ajmg.c.30287 PMID:17764084 AUTHORS Sperandeo MP, Andria G, Sebastio G TITLE Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. JOURNAL Hum Mutat 29:14-21 (2008) DOI:10.1002/humu.20589 |