OMIA 000419 : Glycogen storage disease II

Possible human homologue (MIM number): 232300

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)

Edit History

  • Created by Frank Nicholas on 14 Jul 2011
  • Changed by Frank Nicholas on 21 May 2012
  • Changed by Frank Nicholas on 14 Jul 2017