NEUTRAL AMINO ACID TRANSPORT DEFECT
\njˈuːtɹə͡l ɐmˈiːnə͡ʊ ˈasɪd tɹˈanspɔːt dˈiːfɛkt], \njˈuːtɹəl ɐmˈiːnəʊ ˈasɪd tɹˈanspɔːt dˈiːfɛkt], \n_j_ˈuː_t_ɹ_əl ɐ_m_ˈiː_n_əʊ ˈa_s_ɪ_d t_ɹ_ˈa_n_s_p_ɔː_t d_ˈiː_f_ɛ_k_t]\
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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)
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