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.

References


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.

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  • Created by Frank Nicholas on 06 Sep 2005