HYPERPHENYLALANINAEMIAS
\hˌa͡ɪpəfˌiːna͡ɪlˌalɐnɪnˈiːmi͡əz], \hˌaɪpəfˌiːnaɪlˌalɐnɪnˈiːmiəz], \h_ˌaɪ_p_ə_f_ˌiː_n_aɪ_l_ˌa_l_ɐ_n_ɪ_n_ˈiː_m_iə_z]\
Sort: Oldest first
-
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).
By DataStellar Co., Ltd
Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.