National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Hartnup Disease is not the name you expected.
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.
Belgian Association for Metabolic Diseases
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CLIMB (Children Living with Inherited Metabolic Diseases)
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Genetic and Rare Diseases (GARD) Information Center
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NIH/National Institute of Neurological Disorders and Stroke
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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
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