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Hartnup disorder - Overview

Definition of Hartnup disorder:

Hartnup disorder is an inherited metabolic condition that involves the transport of certain amino acids (for example, tryptophan and histidine) in the small intestine and kidneys.

Causes, incidence, and risk factors:

Hartnup disorder is possibly the most common metabolic condition involving amino acids. It is an inherited condition. A child must inherit a copy of the defective gene from both parents in order to be seriously affected.

The condition usually starts between ages 3 - 5 years.

  • Reviewed last on: 9/10/2010
  • Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Rezvani I. Defects in metabolism of amino acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 85.

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