GLYCOGEN DEBRANCHING ENZYME DEFICIENCY
\ɡlˈa͡ɪkəd͡ʒən dˈɛbɹant͡ʃɪŋ ˈɛnza͡ɪm dɪfˈɪʃənsi], \ɡlˈaɪkədʒən dˈɛbɹantʃɪŋ ˈɛnzaɪm dɪfˈɪʃənsi], \ɡ_l_ˈaɪ_k_ə_dʒ_ə_n d_ˈɛ_b_ɹ_a_n_tʃ_ɪ_ŋ ˈɛ_n_z_aɪ_m 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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Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.