Glycogen storage disease type III causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
Glycogen storage disease type 3 is an autosomal recessive disorder. Glycogen storage disease type 3 is caused by the deficiency of the glycogen debranching enzyme (GDE). AGL gene mutation responsible for the glycogen debranching enzyme (GDE) deficiency is located on chromosome 1p21.
Causes
- Glycogen storage disease type 3 is an autosomal recessive disorder.
- Glycogen storage disease type 3 is caused by the deficiency of the glycogen debranching enzyme (GDE). AGL gene mutation responsible for the glycogen debranching enzyme (GDE) deficiency is located on chromosome 1p21.[1]
References
- ↑ Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T; et al. (2009). "Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations". J Hum Genet. 54 (11): 681–6. doi:10.1038/jhg.2009.100. PMID 19834502.