单词 | Deficiencies,Debrancher |
释义 | Deficiencies,Debrancher《英文msh词典》Deficiencies,Debrancher [入口词] Deficiencies,Debrancher [主题词] Glycogen Storage Disease Type III [英文释义] 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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