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LPI is caused by mutations in the <jats:italic>SLC7A7<\/jats:italic> gene, which encodes the y<jats:sup>+<\/jats:sup>LAT\u20101 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family. LPI was initially described in Finland, but has worldwide distribution. Typically, symptoms begin after weaning with refusal of feeding, vomiting, and consequent failure to thrive. Hepatosplenomegaly, hematological anomalies, neurological involvement, including hyperammonemic coma are recurrent clinical features. Two major complications, pulmonary alveolar proteinosis and renal disease are increasingly observed in LPI patients. There is extreme variability in the clinical presentation even within individual families, frequently leading to misdiagnosis or delayed diagnosis. This condition is diagnosed by urine amino acids, showing markedly elevated excretion of lysine and other dibasic amino acids despite low plasma levels of lysine, ornithine, and arginine. The biochemical diagnosis can be uncertain, requiring confirmation by DNA testing. So far, approximately 50 different mutations have been identified in the <jats:italic>SLC7A7<\/jats:italic> gene in a group of 142 patients from 110 independent families. No genotype\u2013phenotype correlation could be established. Therapy requires a low protein diet, low\u2010dose citrulline supplementation, nitrogen\u2010scavenging compounds to prevent hyperammonemia, lysine, and carnitine supplements. Supportive therapy is available for most complications with bronchoalveolar lavage being necessary for alveolar proteinosis. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30287","type":"journal-article","created":{"date-parts":[[2011,2,9]],"date-time":"2011-02-09T21:28:27Z","timestamp":1297286907000},"page":"54-62","source":"Crossref","is-referenced-by-count":115,"title":["Lysinuric protein intolerance: Reviewing concepts on a multisystem disease"],"prefix":"10.1002","volume":"157","author":[{"given":"Gianfranco","family":"Sebastio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria P.","family":"Sperandeo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Generoso","family":"Andria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,2,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3570593"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-32"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0446-9"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/6815"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004249900215"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00018.2006"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3490787"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2002.00221.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2002.00226.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-14"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2010.69"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/134.10.2752S"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00232-006-0875-7"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.2000.279.6.C1829"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01955906"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0929-693X(96)87577-4"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70423-3"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00071.2002"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.145"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0236-9"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v10.i14.2003"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81703-2"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200009)16:3<270::AID-HUMU14>3.0.CO;2-J"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-5954-x"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/137.6.1616S"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/83.2.508S"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/137.6.1602S"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.3.431"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(03)00054-8"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1186\/1465-9921-11-87"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<367::AID-HUMU9>3.0.CO;2-C"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1152\/physiol.00051.2004"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(95)70552-X"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.104.4.1176"},{"key":"e_1_2_7_36_1","first-page":"536","article-title":"Abnormal pulmonary macrophages in lysinuric protein intolerance. 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