HYPERPHENYLALANINAEMIAS
\hˌa͡ɪpəfˌiːna͡ɪlˌalɐnɪnˈiːmi͡əz], \hˌaɪpəfˌiːnaɪlˌalɐnɪnˈiːmiəz], \h_ˌaɪ_p_ə_f_ˌiː_n_aɪ_l_ˌa_l_ɐ_n_ɪ_n_ˈiː_m_iə_z]\
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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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