In other species: dog , domestic cat , taurine cattle , sheep , Japanese quail

Categories: Lysosomal storage disease

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 232300 (trait) , 606800 (gene)

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.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: 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