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
Quinones
- Hydrocarbon rings which contain two moieties position. They can be substituted in any position except at the ketone groups.