Stephen J. Schueler, M.D.

Overview Evaluation Treatment Underlying Cause cystinuria hartnup disease homocystinuria phenylketonuria

Hartnup Disease Evaluation

The evaluation of aminoaciduria begins with a history and physical examination. The symptoms and physical findings depend on the type of aminoaciduria present.

The diagnosis of aminoaciduria requires urine testing. Analysis of the urine will reveal the abnormal presence of a specific amino acid.

Continue to Hartnup Disease Treatment

Last Updated: Mar 12, 2008 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
Copyright DSHI Systems, Inc. Powered by: FreeMD - Your Virtual Doctor

PubMed Hartnup Disease 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]
FreeMD is provided for information purposes only and should not be used as a substitute for evaluation and treatment by a physician. Please review our terms of use.