ATYPICAL PHENYLKETONURIA
\e͡ɪtˈɪpɪkə͡l fˌiːna͡ɪlkˌɛtənjˈʊɹi͡ə], \eɪtˈɪpɪkəl fˌiːnaɪlkˌɛtənjˈʊɹiə], \eɪ_t_ˈɪ_p_ɪ_k_əl f_ˌiː_n_aɪ_l_k_ˌɛ_t_ə_n_j_ˈʊ_ɹ_iə]\
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A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
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