title: 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.
authors.affiliation: Veterinary Medical Teaching Hospital, School of Veterinary Medicine, University of California, Davis, USA.
authors.forename: S
authors.initials: S
authors.lastname: Angelos
authors.forename: S J
authors.initials: SJ
authors.lastname: Valberg
authors.forename: B P
authors.initials: BP
authors.lastname: Smith
authors.forename: P S
authors.initials: PS
authors.lastname: McQuarrie
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: S
authors.initials: S
authors.lastname: Tsujino
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: G H
authors.initials: GH
authors.lastname: Cardinet
mesh_terms: D000818:Animals; D001706:Biopsy; D002417:Cattle; D002418:Cattle Diseases; D005260:Female; D006003:Glycogen / Q000032:analysis; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology* / Q000503:physiopathology*; D010375:Pedigree; D010732:Phosphofructokinase-1 / Q000378:metabolism; D006005:Phosphorylases / Q000172:deficiency* / Q000378:metabolism; D010805:Physical Conditioning, Animal; D012206:Rhabdomyolysis / Q000473:pathology / Q000503:physiopathology / Q000662:veterinary*
chemical_list: D006003:Glycogen; D006005:Phosphorylases; D010732:Phosphofructokinase-1