Early-onset hepatic fibrosis in lysinuric protein intolerance

Journal of Pediatric Gastroenterology and Nutrition

Volumn 53, Issue 6, 2011, Pages 695-698

  Shinawi, Marwan ^a   Dietzen, Dennis J ^a   White, Frances V ^a   Sprietsma, Laurie ^a   Weymann, Alexander ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARTATE AMINOTRANSFERASE; CITRULLINE; GLUTAMINE; HOMOCITRULLINE; LYSINE; ORNITHINE; OXIDOREDUCTASE; THYROXINE BINDING GLOBULIN;

ARTICLE; CASE REPORT; CHILD; GENE MUTATION; GENE SEQUENCE; GLYCOGEN STORAGE DISEASE; HUMAN; LIVER BIOPSY; LIVER FIBROSIS; LYSINURIC PROTEIN INTOLERANCE; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DIET; REPEAT PROCEDURE; URINARY EXCRETION;

AMINO ACID METABOLISM, INBORN ERRORS; ANTIGENS, CD98 LIGHT CHAINS; CHILD, PRESCHOOL; CITRULLINE; HUMANS; LIVER; LIVER CIRRHOSIS; LYSINE; MALE; MUTATION; TREATMENT OUTCOME;

EID: 82355169792     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/MPG.0b013e318227b02d     Document Type: Article

References (17)

1. Torrents D, Mykkänen J, Pineda M, et al. Identification of SLC7A7, encoding y()LAT-1, as the lysinuric protein intolerance gene. Nat Genet 1999;21:293-6. (Pubitemid 29124937)
2. Borsani G, Bassi MT, Sperandeo MP, et al. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet 1999;21:297-301. (Pubitemid 29124938)
3. Simell O, Perheentupa J, Rapola J, et al. Lysinuric protein intolerance. Am J Med 1975;59:229-40.
4. Sebastio G, Sperandeo MP, Andria G. Lysinuric protein intolerance: reviewing concepts on a multisystem disease. Am J Med Genet C Semin Med Genet 2011;157:54-62.
5. Bröer S. Lysinuric protein intolerance: one gene, many problems. Am J Physiol Cell Physiol 2007;293:C540-1. (Pubitemid 47235173)
6. Parto K, Kallajoki M, Aho H, et al. Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance. Hum Pathol 1994;25:400-7.
7. McManus DT, Moore R, Hill CM, et al. Necropsy findings in lysinuric protein intolerance. J Clin Pathol 1996;49:345-7. (Pubitemid 26142895)
8. Kekomäki M, Räihä NC, Perheentupa J. Familial protein intolerance with deficient transport of basic amino acids. An analysis of 10 patients. Acta Paediatr Scand 1967;56:617-30.
9. Ono N, Kishida K, Tokumoto K, et al. Lysinuric protein intolerance presenting deficiency of argininosuccinate synthetase. Intern Med 1992;31:55-9.
10. Palaćin M, Bertran J, Chillarón J, et al. Lysinuric protein intolerance: mechanisms of pathophysiology. Mol Genet Metab 2004;81:S27-37. (Pubitemid 38402232)
11. Sperandeo MP, Andria G, Sebastio G. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. Hum Mutat 2008;29:14-21.
12. Badizadegan K, Perez-Atayde AR. Focal glycogenosis of the liver in disorders of ureagenesis: its occurrence and diagnostic significance. Hepatology 1997;26:365-73. (Pubitemid 27328314)
13. Torrents D, Estévez R, Pineda M, et al. Identification and characterization of a membrane protein (yL amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity yL. A candidate gene for lysinuric protein intolerance. J Biol Chem 1998;273:32437-45. (Pubitemid 28557616)
14. Takeda T, Watanabe H, Saito T, et al. Impaired portal circulation resulting from L-arginine deficiency in patients with lysinuric protein intolerance. Gut 2006;55:1526-7. (Pubitemid 44476807)
15. Tanner LM, Näntö-Salonen K, Venetoklis J, et al. Nutrient intake in lysinuric protein intolerance. J Inherit Metab Dis 2007;30:716-21. (Pubitemid 47559884)
16. Tanner LM, Näntö-Salonen K, Niinikoski H, et al. Long-term oral lysine supplementation in lysinuric protein intolerance. Metabolism 2007;56: 185-9. (Pubitemid 46074064)
17. Tanner LM, Näntö-Salonen K, Rashed MS, et al. Carnitine deficiency and L-carnitine supplementation in lysinuric protein intolerance. Metabolism 2008;57:549-54. (Pubitemid 351317970)