obsolete_Glycogen storage disease due to glycogen debranching enzyme deficiency true Glycogen Storage Disease Type III OMIM:232400 UMLS:C2936915 MESH:D006010 GSD due to glycogen debranching enzyme deficiency GSD type 3 3.41.0 Glycogen storage disease, type III (disorder) http://purl.obolibrary.org/obo/MONDO_0009291 amylo 1,6 glucosidase deficiency Glycogenosis due to glycogen debranching enzyme deficiency Glycogenosis type 3 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. Limit dextrinosis Cori-Forbes disease Cori disease Amylo-1,6-glucosidase deficiency deficiency of dextrin MedDRA:10053250 Glycogen storage disease type 3 Replaced with Mondo term. deficiency of debranching enzyme GSDIII GDE deficiency glycogen storage disease III ICD10:E74.0 DOID:2748 Forbes disease UMLS:C0017922