Hartnup Disease

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Hartnup Disease is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Hartnup disease is a rare genetic disorder that involves an inborn error of amino acid metabolism. The disorder is characterized by a distinctive skin rash and in a few reported cases was accompanied by episodes of neurological involvement that can include an inability to coordinate voluntary movements (ataxia), vision problems, and cognitive delays. The symptoms associated with this disorder may be triggered by fever, drugs, or during situations when an affected individual is under emotional or physical stress such as during an illness. Generally, the frequency of such episodes usually diminishes with age. Hartnup disease is caused by mutations in the SLC6A19 gene and is inherited in an autosomal recessive manner.

Supporting Organizations

Belgian Association for Metabolic Diseases

Floralaan 35A
Beveren, 9120
Belgium
Tel: 03 775 48 39
Fax: 03 775 48 39
Email: info@boks.be
Website: http://www.boks.be/

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Website: http://www.CLIMB.org.uk

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Website: http://www.ninds.nih.gov/

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  3/7/2016
Copyright  2016 National Organization for Rare Disorders, Inc.