BRANCHER DEFICIENCY
\bɹˈant͡ʃə dɪfˈɪʃənsi], \bɹˈantʃə dɪfˈɪʃənsi], \b_ɹ_ˈa_n_tʃ_ə d_ɪ_f_ˈɪ_ʃ_ə_n_s_i]\
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An autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal glycogen with long outer branches. Clinical features are muscle hypotonia and cirrhosis. Death from liver disease usually occurs before age 2.
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.