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]\
Definitions of GLYCOGEN DEBRANCHING ENZYME DEFICIENCY
Sort: Oldest first
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.
By DataStellar Co., Ltd
Word of the day
- Complication diabetes from severe insulin deficiency coupled with an absolute or relative increase in concentration. metabolic acidosis is caused by breakdown of adipose stores and resulting increased levels free fatty acids. Glucagon accelerates the oxidation acids producing excess ketone bodies (ketosis).