PSEUDO HURLER POLYDYSTROPHY
\sˈuːdə͡ʊ hˈɜːlə pˌɒlɪdˈɪstɹəfi], \sˈuːdəʊ hˈɜːlə pˌɒlɪdˈɪstɹəfi], \s_ˈuː_d_əʊ h_ˈɜː_l_ə p_ˌɒ_l_ɪ_d_ˈɪ_s_t_ɹ_ə_f_i]\
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A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. Mental retardation and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
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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.
Nearby Words
- pseudimago
- pseudinogenesis
- pseudinoma
- pseudo
- pseudo arylsulfatase a
- Pseudo Hurler Polydystrophy
- pseudo yam
- pseudo-
- pseudo-aconin
- pseudo-aconitin
- pseudo-angina