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.

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.
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.

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  • Created by Frank Nicholas on 06 Sep 2005