Cattle Pompe’s disease
in Brahman and Shorthorn cattle
About
- Also known as Glycogen storage disease type II or acid maltase deficiency
- It was first identified in 1932 by Joannes Cassianus Pompe
- This disease occurs in 1 out of 40,000 births in Brahman and Shorthorn cattle
- A rare autosomal recessive genetic disease that causes progressive muscle weakness and is inherited from parents.
- Accumulation of glycogen in muscle tissue
- This disease causes deficiency in the enzyme acidic a-glucosidase (AAG)
- Affected calves typically die within 6-12 months of age
Cause
- Caused by a mutation in a gene (acid alpha-glucosidase: also known as acid maltase)
Signs and Symptoms
- There can be different variations of this disease:
- One variation is Infantile:
- Another variation is Late onset form:
Diagnosis
- Progressive muscle weakness
- Eenlarged heart with non specific conduction defects
- Diagnosis is made by estimating the acid alpha glucosidase activity in either skin biopsy (fibroblasts), muscle biopsy (muscle cells) or in white blood cells
- In the late onset form, the diagnosis is by estimation of the enzyme activity in a suitable sample
Treatment
- No known treatments
Prognosis
- The prognosis for cattle with Pompe disease varies according to the onset and severity of symptoms.
- Without treatment the disease is particularly lethal
References
Information
- ABBA Pompe's Disease commonly asked questions http://www.brahman.com.au/download/Pompes_questions.pdf
- Letter from Beef Breeding Services http://www.brangus.com.au/Letter%20from%20Beef%20Breeding%20Services.pdf
Picture
- Inherited and congenital disease of food animals and horses, by: Dr. Donal O'Toole https://www.google.com/url sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwix89z4vbLMAhVS0WMKHffeAdoQjRwIBw&url=http%3A%2F%2Fwww.uwyo.edu%2Fvetsci%2Fundergraduates%2Fcourses%2Fpatb_4110%2F2009_lectures%2F31_genetic_disease%2Fhtml%2Fclass_notes.htm&psig=AFQjCNGLszgMvthuH0LW0LdMWM7GEuefbQ&ust=1461972451827055
- ABBA Pompe's Disease commonly asked questions http://www.brahman.com.au/pompes.html