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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hartnup disease


Other Names for this Disease
  • HND
  • Hartnup disorder
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Overview

Hartnup disease is a metabolic disorder characterized by abnormal transport of certain amino acids in the kidney and gastrointestinal system. It is a type of aminoaciduria. The condition may be diagnosed based on the results of newborn screening tests. Most people with the condition have no symptoms (asymptomatic). For those who do show symptoms, the onset of the disease is usually between the ages of 3 and 9; occasionally the disease may present in adulthood. Mental development is usually normal, though a few cases with intellectual impairment have been reported. The signs and symptoms of Hartnup disease incude skin photosensitivity, neurologic findings, psychiatric symptoms, and ocular (eye) findings. Hartnup disease is caused by mutations in the SLC6A19 gene and is inherited in an autosomal recessive manner.[1][2] People with Hartnup disease may benefit from a high-protein diet, protection from sunlight, vitamin supplementation, and avoidance of certain drugs/medications. In some cases, treatment with nicotinamide supplements and tryptophan ethyl ester may be indicated. [1][2]
Last updated: 12/17/2015

References

  1. Sekulovic, Lidija Kandolf. Hartnup Disease. Medscape Reference. October 8, 2015; http://emedicine.medscape.com/article/1115549-overview. Accessed 12/17/2015.
  2. Wendel, Udo. Hartnup Disease. Orphanet. April, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2116. Accessed 12/17/2015.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hartnup disease. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • HND
  • Hartnup disorder
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.