KEGG   DISEASE: Cystinuria
Entry
H00901                      Disease                                

Name
Cystinuria
Description
Cystinuria is a inherited disorder of re-absorptive transport of cystine and the dibasic amino acids ornithine, arginine and lysine in the proximal tubule and small intestine. Diagnostically, urinary levels of dibasic amino acids lysine, arginine, and ornithine, and most prominently, of cystine are constantly elevated. Plasma levels of these amino acids in general are at the lower end of the normal range. Patients with cystinuria often present with nephro- or urolithiasis at almost at any age with a clear preference in childhood due to elevated urinary cystine. Early diagnosis is important, as it allows prevention or diminution of kidney stones. Mutations in either interacting subunit SLC3A1 (rBAT) or SLC7A9 (b0,+AT) cause cystinuria. Cystinuria due to mutations in SLC3A1 is an autosomal recessive trait, whereas mutations in SLC7A9 can be seen as an autosomal dominant trait.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00901  Cystinuria
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C60  Disorders of amino acid absorption or transport
     H00901  Cystinuria
Related
pathway
hsa04974  Protein digestion and absorption
Gene
SLC3A1 [HSA:6519] [KO:K14210]
SLC7A9 [HSA:11136] [KO:K13868]
Drug
Tiopronin [DR:D01430]
Other DBs
ICD-11: 5C60.2
ICD-10: E72.0
MeSH: D003555
OMIM: 220100
Reference
  Authors
Martens K, Jaeken J, Matthijs G, Creemers JW
  Title
Multi-system disorder syndromes associated with cystinuria type I.
  Journal
Curr Mol Med 8:544-50 (2008)
DOI:10.2174/156652408785747997
Reference
  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
Reference
  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
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