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Hartnup disease
Used for:
neutral amino acid transport defect
Broader Terms:
inborn renal aminoaciduria
Scope Note:
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; results from impaired sodium-dependent transport of neutral amino acids across the brush border membrane of the small intestine and renal tubular epithelium.
Term Number:
1849-4235
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