\bɹˈant͡ʃə dɪfˈɪʃənsɪz], \bɹˈantʃə dɪfˈɪʃənsɪz], \b_ɹ_ˈa_n_tʃ_ə d_ɪ_f_ˈɪ_ʃ_ə_n_s_ɪ_z]\
Definitions of BRANCHER DEFICIENCIES
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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.
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