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Hartnup Disease: A rare metabolic disorder involving an error in the transport of neutral amino acid and characterized by mental retardation, rash due to light sensitivity and cerebellar ataxia. More detailed information about the symptoms, causes, and treatments of Hartnup Disease is available below.
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A disorder of amino acid transport characterized by the childhood (or rarely adult) onset of photosensitive dermatitis and intermittent neurologic symptoms. Ataxia, personality changes, migraine headaches, and photophobia may occur periodically. The disorder results from impaired sodium-dependent transport of neutral amino acids across the brush border membrane of the small intestine and renal tubular epithelium. (From Menkes, Textbook of Child Neurology, 5th ed, pp59-60) - (Source - Diseases Database)
Hartnup Disease is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Hartnup Disease, or a subtype of Hartnup Disease,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
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