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.
Most people show no symptoms. If symptoms do occur, they usually appear in childhood and may include:
A urine test that checks for high levels of "neutral" amino acids and normal levels of other amino acids may be done for this disorder.
Health care providers can test for the gene that causes Hartnup disease, SLC6A19. Biochemical tests are also available.
Most people with this disorder can expect to live a normal life with no disability. Rarely, there have been reports of severe nervous system disease and even deaths in families with this disorder.
There are usually no complications. When they occur, complications may include:
Nervous system symptoms can usually be reversed. However, in rare cases they can be severe or life-threatening.
Call for an appointment with your health care provider if you have symptoms of this condition, especially if you have a family history of Hartnup disorder. Genetic counseling is recommended if you have a family history of this condition and are planning a pregnancy.
Genetic counseling may help prevent some cases. Eating a high-protein diet may prevent amino acid deficiencies that cause symptoms.
Rezvani I, Melvin JJ. Defects in metabolism of amino acids. In: Kliegman RM, Stanton BF, St. Geme J, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 79.
Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.
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