Hartnup disease

[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. ( CSP )]

UMLS (CSP) C0018609

Disease or Syndrome

Relation/PAR: Aminoaciduria, Renal
Amino Acid Transport Disorders, Inborn

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