Stephen J. Schueler, M.D.

Overview Evaluation Treatment Underlying Cause cystinuria hartnup disease homocystinuria phenylketonuria

Homocystinuria Cystinuria

Cystinuria is an inherited aminoaciduria. It results in the accumulation of the amino acid, cystine, in the urine.

Complications of this condition include kidney stone formation.

Continue to Homocystinuria Hartnup Disease

Last Updated: Nov 10, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Homocystinuria References
  1. Brodehl J, Bickel H. Aminoaciduria and hyperaminoaciduria in childhood. Clin Nephrol. 1973 May-Jun;1(3):149-68. [4593448]
  2. Buehler BA. Inherited disorders of amino acid transport in relation to the kidney. Ann Clin Lab Sci. 1981 May-Jun;11(3):274-8. [7018372]
  3. Ozand PT, Gascon GG. Organic acidurias: aPart 2. J Child Neurol. 1991 Oct;6(4):288-303. [1940129]
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