OMIA:000419-9915 : Glycogen storage disease II in Bos indicus (indicine cattle (zebu))
Categories: Lysosomal storage disease
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: yes
Key variant known: no
Year key variant first reported: 2000
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-specific description: see OMIA:000419-9913 : Glycogen storage disease II in Bos taurus for information about this condition in Brahman cattle.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Brahman (Cattle) (VBO_0000159).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
- Created by Imke Tammen2 on 08 Oct 2023
- Changed by Imke Tammen2 on 08 Oct 2023