AMYLOPECTINOSIS
\ˌamɪlˌə͡ʊpktɪnˈə͡ʊsɪs], \ˌamɪlˌəʊpktɪnˈəʊsɪs], \ˌa_m_ɪ_l_ˌəʊ_p_k_t_ɪ_n_ˈəʊ_s_ɪ_s]\
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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
