Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related Charolais cattle

Abstract

A Charolais calf presented to the Veterinary Medical Teaching Hospital with a history of recumbency following forced exercise. The calf was unable to stand, and had severe rhabdomyolysis, dehydration, and electrolyte imbalance. Blood selenium concentrations were within normal limits. A complete absence of histochemical staining for phosphorylase was apparent in muscle biopsies. Five other animals in the herd also had exercise intolerance and had a complete absence of phosphorylase staining in muscle biopsies. Biochemical analyses confirmed a deficiency of myophosphorylase (range 0-0.3 mumol/g per minute: normals 15-27) with normal to slightly elevated muscle glycogen concentrations. Pedigrees from all affected animals showed a common ancestor on the sire's and dam's side of each phosphorylase-deficient animal, suggesting an autosomal recessive transmission. Although myophosphorylase deficiency was described in humans (McArdle's disease) over 40 years ago, these cattle represent the first animal model for this disease.