OMIA:000419 : Glycogen storage disease II
Categories: Lysosomal storage disease
Possible human homologues (MIM numbers): 232300 (trait) , 606800 (gene)
Links to MONDO diseases: No links.
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.
Species in which this phene is found:
dog (Canis lupus familiaris)
domestic cat (Felis catus)
cattle (Bos taurus)
sheep (Ovis aries)
Japanese quail (Coturnix japonica)
- Created by Frank Nicholas on 14 Jul 2011
- Changed by Frank Nicholas on 21 May 2012
- Changed by Frank Nicholas on 14 Jul 2017
- Changed by Imke Tammen2 on 18 Mar 2022