BRANCHER DEFICIENCIES
\bɹˈant͡ʃə dɪfˈɪʃənsɪz], \bɹˈantʃə dɪfˈɪʃənsɪz], \b_ɹ_ˈa_n_tʃ_ə d_ɪ_f_ˈɪ_ʃ_ə_n_s_ɪ_z]\
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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
