DEBRANCHER DEFICIENCIES
\dˈɛbɹant͡ʃə dɪfˈɪʃənsɪz], \dˈɛbɹantʃə dɪfˈɪʃənsɪz], \d_ˈɛ_b_ɹ_a_n_tʃ_ə d_ɪ_f_ˈɪ_ʃ_ə_n_s_ɪ_z]\
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
Health Personnel Attitudes
- Attitudes of personnel toward their patients, other professionals, the medical care system, etc.