Stephen J. Schueler, M.D.

Overview Evaluation Treatment Underlying Cause cystinuria hartnup disease homocystinuria phenylketonuria

Aminoaciduria Underlying Cause

Aminoaciduria is an inherited disorder. The kidneys release abnormally large amounts of one type of amino acid into the urine.

Types of aminoacidurias include:

  • Argininemia
  • Citrullinemia
  • Cystinuria
  • Hartnup disease
  • Homocystinuria
  • Lactic acidemia
  • Maple syrup urine disease
  • Phenylketonuria

Aminoaciduria 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.

Aminoaciduria Hartnup Disease

Hartnup disease is an inherited aminoaciduria. It results in the accumulation of amino acid, tryptophan, in the urine. This occurs due to defective intestinal absorption of tryptophan.

It is characterized by a skin rash and difficulties with balance and incoordination.

Aminoaciduria Homocystinuria

Homocystinuria results in the accumulation of amino acid, methionine, in the urine.

Symptoms include:


Newborns may have:

Aminoaciduria 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: Nov 10, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Aminoaciduria 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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