OMIA 000419-9940 : Glycogen storage disease II in Ovis aries
In other species: domestic cat , cattle , dog , Japanese quail Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 232300 (trait) , 606800 (gene) Mendelian trait/disorder: yes 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.
|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.|
- Created by Frank Nicholas on 06 Sep 2005