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) (MIM number): 232300 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.
|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.|
- Created by Frank Nicholas on 06 Sep 2005