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Hartnup Disease
Abstract
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Synonyms of Hartnup Disease
- Hartnup Disorder
- Hartnup Syndrome
- Hart Syndrome
- H Disease
- Pellagra-Cerebellar Ataxia-Renal Aminoaciduria Syndrome
- Tryptophan Pyrrolase Deficiency
Disorder Subdivisions
- No subdivisions found.
General Discussion
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.
Organizations related to Hartnup Disease
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