Stephen J. Schueler, M.D.

Overview Evaluation Treatment Underlying Cause cystinuria hartnup disease homocystinuria phenylketonuria

Hartnup Disease Phenylketonuria

Phenylketonuria (PKU) is an inherited disorder that can cause profound mental retardation. PKU results from the buildup of phenylalanine in the bloodstream.

Last Updated: Jul 28, 2008 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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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]
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