Cattle Pompe’s disease

in Brahman and Shorthorn cattle


  • 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


  • 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:
Identified within the first few months of life. The usual presenting features are: cardiomegaly (92%), hypotonia (88%), cardiomyopathy (88%), respiratory distress (78%), muscle weakness (63%), feeding difficulties (57%), and failure to thrive (50%). Main clinical findings include: floppy baby appearance, delayed motor milestones, and/or feeding difficulties. Moderate hepatomegaly may be present. Facial features include: macroglossia, wide open mouth, wide open eyes, nasal flaring (due to respiratory distress), and/or poor facial muscle tone. Average age of death is 8.7 months old and death is typically due to cardiorespiratory failure.

  • Another variation is Late onset form:
This form has a slower progression than the infantile form. Skeletal involvement is more prominent especially in lower limbs. Late onset features include: impaired cough, recurrent chest infections, hypotonia, progressive muscle weakness, delayed motor milestones, difficulty swallowing or chewing, reduced vital capacity


  • 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
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  • No known treatments


  • The prognosis for cattle with Pompe disease varies according to the onset and severity of symptoms.
  • Without treatment the disease is particularly lethal