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.
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. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005