OMIA:000419-9940 : Glycogen storage disease II in Ovis aries (sheep) |
In other species: dog , domestic cat , taurine cattle , indicine cattle (zebu) , Japanese quail
Categories: Lysosomal storage disease
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 232300 (trait) , 606800 (gene)
Single-gene trait/disorder: yes
Disease-related: 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.
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2005). OMIA:000419-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2020 | Almodóvar-Payá, A., Villarreal-Salazar, M., de Luna, N., Nogales-Gadea, G., Real-Martínez, A., Andreu, A.L., Martín, M.A., Arenas, J., Lucia, A., Vissing, J., Krag, T., Pinós, T. : |
| Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci 21:9621, 2020. Pubmed reference: 33348688. DOI: 10.3390/ijms21249621. | |
| 1993 | Reuser, A.J.J. : |
| Molecular biology, therapeutic trials and animal models of lysosomal storage diseases - Type-II glycogenosis as an example. Annales de Biologie Clinique 51:218-219, 1993. | |
| 1975 | Manktelow, B.W., Hartley, W.J. : |
| Generalised glycogen storage disease in sheep Journal of Comparative Pathology 85:139-145, 1975. Pubmed reference: 1055118. |
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- Created by Frank Nicholas on 06 Sep 2005