OMIA 000419-93934 : Glycogen storage disease II in Coturnix japonica
In other species: dog , domestic cat , cattle , sheep Possibly relevant human trait(s) and/or gene(s) (MIM number): 232300 Mendelian trait/disorder: yes Mode of inheritance: Autosomal Recessive Considered a defect: yes Key variant known: no Cross-species summary: Also called Pompe disease, Pompe's disease, acid maltase deficiency, and generalised glycogenesis type II. A lysosomal storage disease in which there is a buildup (storage) of glycogen, due to the lack of the enzyme alpha-glucosidase, whose task is to break down glycogen into its constituent glucose molecules. Characterised by poor growth, incoordination, muscle weakness and eventual recumbency.
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|1998||Kikuchi, T., Yang, H.W., Pennybacker, M., Ichihara, N., Mizutani, M., Vanhove, J.L.K., Chen, Y.T. :|
|Clinical and metabolic correction of Pompe-disease by enzyme therapy in acid maltase-deficient quail Journal of Clinical Investigation 101:827-833, 1998. Pubmed reference: 9466978. DOI: 10.1172/JCI1722.|
|Tsujino, S., Kinoshita, N., Tashiro, T., Ikeda, K., Ichihara, N., Kikuchi, H., Hagiwara, Y., Mizutani, M., Kikuchi, T., Sakuragawa, N. :|
|Adenovirus-mediated transfer of human acid maltase gene reduces glycogen accumulation in skeletal muscle of japanese quail with acid maltase deficiency Human Gene Therapy 9:1609-1616, 1998. Pubmed reference: 9694159. DOI: 10.1089/hum.1998.9.11-1609.|
|Yang, H.W., Kikuchi, T., Hagiwara, Y., Mizutani, M., Chen, Y.T., Vanhove, J.L.K. :|
|Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts Pediatric Research 43:374-380, 1998. Pubmed reference: 9505277.|
|1997||Kunita, R., Nakabayashi, O., Wu, J.Y., Hagiwara, Y., Mizutani, M., Pennybacker, M., Chen, Y.T., Kikuchi, T. :|
|Molecular cloning of acid alpha-glucosidase cDNA of Japanese quail (coturnix coturnix japonica) and the lack of its mRNA in acid maltase deficient quails Biochimica et Biophysica Acta - Molecular Basis of Disease 1362:269-278, 1997.|
|1996||Miyagawatomita, S., Morishima, M., Nakazawa, M., Mizutani, M., Kikuchi, T. :|
|Pathological study of Japanese quail embryo with acid alpha-glucosidase deficiency during early development Acta Neuropathologica 92:249-254, 1996. Pubmed reference: 8870826.|
|1983||Walvoort, HC. :|
|Glycogen storage diseases in animals and their potential value as models of human disease. J Inherit Metab Dis 6:3-16, 1983. Pubmed reference: 6408305.|
- Created by Frank Nicholas on 06 Sep 2005