Stephen J. Schueler, M.D.

Overview Evaluation Treatment Underlying Cause cystinuria hartnup disease homocystinuria phenylketonuria

Homocystinuria Overview

Another name for Homocystinuria is Aminoaciduria.

What is aminoaciduria?
A person with aminoaciduria releases abnormally large amounts of a particular amino acid in the urine. There are several forms of aminoaciduria. Aminoaciduria is an inherited disorder. Each of the forms of this disease has its own symptoms, based on the amino acid that accumulates in the urine.

What are the symptoms of aminoaciduria?
Symptoms of aminoaciduria depend on the underlying type.

How does the doctor treat aminoaciduria?
There is no cure for aminoaciduria. Aminoaciduria is often treated with a restrictive diet, to minimize or eliminate exposure to a particular amino acid.

Continue to Homocystinuria Evaluation

Last Updated: Mar 3, 2011 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 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]
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.