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