GANGLIOSIDOSES GM2
\ɡˈaŋɡlɪˌɒsɪdˌə͡ʊzɪz d͡ʒˌiːˈɛm tˈuː], \ɡˈaŋɡlɪˌɒsɪdˌəʊzɪz dʒˌiːˈɛm tˈuː], \ɡ_ˈa_ŋ_ɡ_l_ɪ__ˌɒ_s_ɪ_d_ˌəʊ_z_ɪ_z dʒ_ˌiː__ˈɛ_m t_ˈuː]\
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Inherited diseases characterized by the accumulation of G (M2) GANGLIOSIDE in central nervous system lysosomes and variably in other tissues. Subtypes include TAY-SACHS DISEASE and SANDHOFF DISEASE, as well as an AB variant of BETA-N-ACETYLHEXOSAMINIDASE deficiency and an adult onset form of GM2 Gangliosidosis.
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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.