HUNTER SYNDROME GARGOYLISMS
\hˈʌntə sˈɪndɹə͡ʊm ɡˈɑːɡɔ͡ɪlˌɪzəmz], \hˈʌntə sˈɪndɹəʊm ɡˈɑːɡɔɪlˌɪzəmz], \h_ˈʌ_n_t_ə s_ˈɪ_n_d_ɹ_əʊ_m ɡ_ˈɑː_ɡ_ɔɪ_l_ˌɪ_z_ə_m_z]\
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Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.
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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.