PHENYLALANINE HYDROXYLASE DEFICIENCY DISEASE
\fˌiːna͡ɪlˈalɐnˌa͡ɪn hˈa͡ɪdɹəksˌɪle͡ɪs dɪfˈɪʃənsi dɪzˈiːz], \fˌiːnaɪlˈalɐnˌaɪn hˈaɪdɹəksˌɪleɪs dɪfˈɪʃənsi dɪzˈiːz], \f_ˌiː_n_aɪ_l_ˈa_l_ɐ_n_ˌaɪ_n h_ˈaɪ_d_ɹ_ə_k_s_ˌɪ_l_eɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_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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Word of the day
tinctura quininae ammoniata
- A preparation made by dissolving quinin sulphate in alcohol [Br. Ph.].
Nearby Words
- phenylalanine
- phenylalanine 4 hydroxylase
- phenylalanine 4 monooxygenase
- phenylalanine ammonia lyase
- phenylalanine hydroxylase
- Phenylalanine Hydroxylase Deficiency Disease
- phenylalanine hydroxylase deficiency disease, maternal
- phenylalanine hydroxylase deficiency disease, severe
- phenylalanine lysine vasopressin
- phenylalanine mustard
- phenylalanine specific trna