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Disease relevance of Cystinuria


High impact information on Cystinuria

  • Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT [6].
  • Mutations in SLC3A1, encoding rBAT, cause cystinuria type I (ref. 1), but not other types of cystinuria (ref. 2). A gene whose mutation causes non-type I cystinuria has been mapped by linkage analysis to 19q12-13.1 (Refs 3,4) [6].
  • Cystinuria (MIM 220100) is a common recessive disorder of renal reabsorption of cystine and dibasic amino acids [6].
  • Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine [7].
  • We studied four patients with cystinuria to assess the effects of glutamine and dietary sodium on the urinary excretion of dibasic amino acids [8].

Chemical compound and disease context of Cystinuria


Biological context of Cystinuria


Anatomical context of Cystinuria


Gene context of Cystinuria

  • Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes [21].
  • No mutations causing cystinuria have been found in SLC7A10 [22].
  • Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis [1].
  • In cystinuric dogs of six other breeds, either heterozygosity at the SLC3A1 locus or lack of mutations in the coding region of the SLC3A1 gene were observed, indicating that cystinuria is genetically heterogeneous in dogs, as it is in humans [23].
  • Although the mutations of the recently identified transporter BAT1/b(0,+)AT have been related to nontype I cystinuria, the function and localization of human BAT1 (hBAT1)/b(0,+)AT have not been well characterized [24].

Analytical, diagnostic and therapeutic context of Cystinuria


  1. Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis. Feliubadaló, L., Arbonés, M.L., Mañas, S., Chillarón, J., Visa, J., Rodés, M., Rousaud, F., Zorzano, A., Palacín, M., Nunes, V. Hum. Mol. Genet. (2003) [Pubmed]
  2. Cystinuria subtype and the risk of nephrolithiasis. Goodyer, P., Saadi, I., Ong, P., Elkas, G., Rozen, R. Kidney Int. (1998) [Pubmed]
  3. Association between M467T and 114 C-->A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain. Guillén, M., Corella, D., Cabello, M.L., García, A.M., Portolés, O., Hernández-Yago, J. Hum. Genet. (2000) [Pubmed]
  4. Hyperammonemia in lysinuric protein intolerance. Kato, T., Mizutani, N., Ban, M. Pediatrics (1984) [Pubmed]
  5. Hyperlysinemia with saccharopinuria due to combined lysine-ketoglutarate reductase and saccharopine dehydrogenase deficiencies presenting as cystinuria. Cederbaum, S.D., Shaw, K.N., Dancis, J., Hutzler, J., Blaskovics, J.C. J. Pediatr. (1979) [Pubmed]
  6. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Feliubadaló, L., Font, M., Purroy, J., Rousaud, F., Estivill, X., Nunes, V., Golomb, E., Centola, M., Aksentijevich, I., Kreiss, Y., Goldman, B., Pras, M., Kastner, D.L., Pras, E., Gasparini, P., Bisceglia, L., Beccia, E., Gallucci, M., de Sanctis, L., Ponzone, A., Rizzoni, G.F., Zelante, L., Bassi, M.T., George, A.L., Manzoni, M., De Grandi, A., Riboni, M., Endsley, J.K., Ballabio, A., Borsani, G., Reig, N., Fernández, E., Estévez, R., Pineda, M., Torrents, D., Camps, M., Lloberas, J., Zorzano, A., Palacín, M. Nat. Genet. (1999) [Pubmed]
  7. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Calonge, M.J., Gasparini, P., Chillarón, J., Chillón, M., Gallucci, M., Rousaud, F., Zelante, L., Testar, X., Dallapiccola, B., Di Silverio, F. Nat. Genet. (1994) [Pubmed]
  8. Anticystinuric effects of glutamine and of dietary sodium restriction. Jaeger, P., Portmann, L., Saunders, A., Rosenberg, L.E., Thier, S.O. N. Engl. J. Med. (1986) [Pubmed]
  9. No effect of L-glutamine on cystinuria. Skovby, F., Rosenberg, L.E., Thier, S.O. N. Engl. J. Med. (1980) [Pubmed]
  10. Pregnancy and cystinuria. Gregory, M.C., Mansell, M.A. Lancet (1983) [Pubmed]
  11. Jejunal and ileal absorption of dibasic amino acids and an arginine-containing dipeptide in cystinuria. Silk, D.B., Perrett, D., Clark, M.L. Gastroenterology (1975) [Pubmed]
  12. Luminal heterodimeric amino acid transporter defective in cystinuria. Pfeiffer, R., Loffing, J., Rossier, G., Bauch, C., Meier, C., Eggermann, T., Loffing-Cueni, D., Kühn, L.C., Verrey, F. Mol. Biol. Cell (1999) [Pubmed]
  13. Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q. Wartenfeld, R., Golomb, E., Katz, G., Bale, S.J., Goldman, B., Pras, M., Kastner, D.L., Pras, E. Am. J. Hum. Genet. (1997) [Pubmed]
  14. Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. Calonge, M.J., Volpini, V., Bisceglia, L., Rousaud, F., de Sanctis, L., Beccia, E., Zelante, L., Testar, X., Zorzano, A., Estivill, X. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  15. Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. Bisceglia, L., Calonge, M.J., Totaro, A., Feliubadaló, L., Melchionda, S., García, J., Testar, X., Gallucci, M., Ponzone, A., Zelante, L., Zorzano, A., Estivill, X., Gasparini, P., Nunes, V., Palacín, M. Am. J. Hum. Genet. (1997) [Pubmed]
  16. Mutations in the SLC3A1 transporter gene in cystinuria. Pras, E., Raben, N., Golomb, E., Arber, N., Aksentijevich, I., Schapiro, J.M., Harel, D., Katz, G., Liberman, U., Pras, M. Am. J. Hum. Genet. (1995) [Pubmed]
  17. Apical heterodimeric cystine and cationic amino acid transporter expressed in MDCK cells. Bauch, C., Verrey, F. Am. J. Physiol. Renal Physiol. (2002) [Pubmed]
  18. Cystinuria: reduced lysine permeability at the brush border of intestinal membrane cells. Coicadan, L., Heyman, M., Grasset, E., Desjeux, J.F. Pediatr. Res. (1980) [Pubmed]
  19. Reference values of urinary excretion of cystine and dibasic aminoacids: classification of patients with cystinuria in the Valencian Community, Spain. Guillén, M., Corella, D., Cabello, M.L., García, A.M., Hernández-Yago, J. Clin. Biochem. (1999) [Pubmed]
  20. Decreased uptake of L-cystine by duodenal brush border membrane vesicles from patients with cystinuria. Furlong, T.J., Stiel, D. Australian and New Zealand journal of medicine. (1993) [Pubmed]
  21. Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. Botzenhart, E., Vester, U., Schmidt, C., Hesse, A., Halber, M., Wagner, C., Lang, F., Hoyer, P., Zerres, K., Eggermann, T. Kidney Int. (2002) [Pubmed]
  22. The amino acid transporter asc-1 is not involved in cystinuria. Pineda, M., Font, M., Bassi, M.T., Manzoni, M., Borsani, G., Marigo, V., Fernández, E., Río, R.M., Purroy, J., Zorzano, A., Nunes, V., Palacín, M. Kidney Int. (2004) [Pubmed]
  23. Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs. Henthorn, P.S., Liu, J., Gidalevich, T., Fang, J., Casal, M.L., Patterson, D.F., Giger, U. Hum. Genet. (2000) [Pubmed]
  24. Human cystinuria-related transporter: localization and functional characterization. Mizoguchi, K., Cha, S.H., Chairoungdua, A., Kim, D.K., Shigeta, Y., Matsuo, H., Fukushima, J., Awa, Y., Akakura, K., Goya, T., Ito, H., Endou, H., Kanai, Y. Kidney Int. (2001) [Pubmed]
  25. Rapid loss of renal parenchyma after acute obstruction. Parvex, P., Pippi-Salle, J.L., Goodyer, P.R. Pediatr. Nephrol. (2001) [Pubmed]
  26. The effect of sodium intake on cystinuria with and without tiopronin treatment. Lindell, A., Denneberg, T., Edholm, E., Jeppsson, J.O. Nephron (1995) [Pubmed]
  27. Cystine urolithiasis in Finland. Ala-Opas, M. Annales chirurgiae et gynaecologiae. (1989) [Pubmed]
  28. Pilot screening programme for cystinuria in the Valencian community. Cabello-Tomás, M.L., García-Gómez, A.M., Guillén-Domínguez, M.L. Eur. J. Epidemiol. (1999) [Pubmed]
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