OMIA 000419-9685 : Glycogen storage disease II in Felis catus

In other species: dog , cattle , sheep , 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.
2021 Tanaka, S., Suzuki, R., Koyama, H., Machida, N., Yabuki, A., Yamato, O. :
Glycogen storage disease in a young cat with heart failure. J Vet Intern Med :, 2021. Pubmed reference: 34939226. DOI: 10.1111/jvim.16339.
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.
1988 Gilbert, D.A., O'Brien, J.S., O'Brien, S.J. :
Chromosomal mapping of lysosomal enzyme structural genes in the domestic cat Genomics 2:329-336, 1988. Pubmed reference: 3220474.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Imke Tammen2 on 14 Jan 2022