DEBRANCHER DEFICIENCY
\dˈɛbɹant͡ʃə dɪfˈɪʃənsi], \dˈɛbɹantʃə dɪfˈɪʃənsi], \d_ˈɛ_b_ɹ_a_n_tʃ_ə d_ɪ_f_ˈɪ_ʃ_ə_n_s_i]\
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An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.
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Platidiam
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