OMIA:000420-9615 : Glycogen storage disease IV in Canis lupus familiaris
In other species: domestic cat , horse
Categories: Homeostasis / metabolism phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 232500 (trait) , 607839 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: yes
Cross-species summary: Glycogen storage disease caused by glycogen branching enzyme (GBE) deficiency
Clinical features: Jolly et al. (2002) reported that "The nature, distribution and histochemistry of lesions observed [in a mixed-breed dog] are consistent with a putative diagnosis of Glycogen storage disease type IV, an inherited metabolic defect associated with a deficiency of glycogen-branching enzyme not previously reported in dogs."
Breed: Mixed breed (dog).
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.|
|2002||Jolly, R.D., Hill, F.I., Hill, J.A., Mehrtens, G.N., Davey, P.M., Hopcroft, D.H. :|
|Polyglucosan body disease in a mixed-breed dog. N Z Vet J 50:32-5, 2002. Pubmed reference: 16032207 . DOI: 10.1080/00480169.2002.36247.|
- Created by Frank Nicholas on 15 Oct 2020