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
basidiomycota
- comprises fungi bearing the spores on basidium: Gasteromycetes (puffballs); Tiliomycetes (comprising orders Ustilaginales (smuts) and Uredinales (rusts)); Hymenomycetes (mushrooms; toadstools; agarics; bracket fungi); in some classification systems considered a division of kingdom comprises fungi bearing spores on a basidium; includes Gasteromycetes (puffballs) Tiliomycetes comprising the orders Ustilaginales (smuts) and Uredinales (rusts) Hymenomycetes (mushrooms, toadstools, agarics bracket fungi).