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.
Congenital disorder of metabolism
Human diseases [BR:
Congenital disorders of metabolism
Congenital disorders of amino acid metabolism
Human diseases in ICD-11 classification [BR:
05 Endocrine, nutritional or metabolic diseases
Disorders of metabolite absorption or transport
5C60 Disorders of amino acid absorption or transport
Protein digestion and absorption
Martens K, Jaeken J, Matthijs G, Creemers JW
Multi-system disorder syndromes associated with cystinuria type I.
Curr Mol Med 8:544-50 (2008)
Sebastio G, Sperandeo MP, Andria G
Lysinuric protein intolerance: reviewing concepts on a multisystem disease.
Am J Med Genet C Semin Med Genet 157:54-62 (2011)
Camargo SM, Bockenhauer D, Kleta R
Aminoacidurias: Clinical and molecular aspects.
Kidney Int 73:918-25 (2008)
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