ANDERSEN DISEASE
\ˈandɜːsən dɪzˈiːz], \ˈandɜːsən dɪzˈiːz], \ˈa_n_d_ɜː_s_ə_n d_ɪ_z_ˈiː_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
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