POLYDYSTROPHIC OLIGOPHRENIA
\pˌɒlɪdɪstɹˈɒfɪk ˌɒlɪɡəfɹˈiːni͡ə], \pˌɒlɪdɪstɹˈɒfɪk ˌɒlɪɡəfɹˈiːniə], \p_ˌɒ_l_ɪ_d_ɪ_s_t_ɹ_ˈɒ_f_ɪ_k ˌɒ_l_ɪ_ɡ_ə_f_ɹ_ˈiː_n_iə]\
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Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
By DataStellar Co., Ltd
Word of the day
Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.