National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Hartnup Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Hartnup Disorder
- Hartnup Syndrome
- Hart Syndrome
- H Disease
- Pellagra-Cerebellar Ataxia-Renal Aminoaciduria Syndrome
- Tryptophan Pyrrolase Deficiency
Hartnup disease is a rare metabolic disorder inherited as an autosomal recessive trait. It involves an inborn error of amino acid metabolism as well as niacin deficiency. Factors that may precipitate acute attacks of this disorder may include poor nutrition, exposure to sunlight, sulphonamide medications and/or psychological stress. Hartnup disease may be marked by skin problems, coordination impairment, vision problems, mild mental retardation, gastrointestinal problems, and central nervous system abnormalities. Frequency of attacks usually diminishes with age.
CLIMB (Children Living with Inherited Metabolic Diseases)
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Genetic and Rare Diseases (GARD) Information Center
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March of Dimes Birth Defects Foundation
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NIH/National Institute of Diabetes, Digestive & Kidney Diseases
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
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.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 1/15/1970
Copyright 2004 National Organization for Rare Disorders, Inc.
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