Myophosphorylase deficiency (glycogen storage disease Type V) in a herd of Charolais cattle in New Zealand: confirmation by PCR-RFLP testing

Authors: MacPherson GR, Anderson IL, Johnstone AC, Kenny JE, Jolly RD, McSporran KD
Publication: New Zealand Veterinary Journal, Volume 52, Issue 6, pp 404-408, Dec 2004
Publisher: Taylor and Francis

Animal type: Cattle, Livestock, Production animal, Ruminant
Subject Terms: Diagnostic procedures, Genetics, Glucose/glycogen, Inherited disease/conditions, Locomotor, Muscle/myology, Disease/defect, Pathology
Article class: Short Communication

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Abstract: AIM: To describe a disease of muscle in Charolais calves and confirm the putative diagnosis of inherited myophosphorylase deficiency.
METHODS: Variously stained paraffin sections of muscle prepared from affected calves were used to describe the lesions. A polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) test was developed and applied to affected calves, their sires, dams and other individuals.
RESULTS: The lesions were those of rhabdomyolysis of skeletal muscles and sub-sarcolemmal spaces in normal fibres. The PCRRFLP test confirmed the expected mutation for phosphorylase deficiency of Charolais cattle in two affected calves. In addition, sires, dams and other closely-related individuals of four affected calves tested as heterozygous for the mutation. Other apparently unrelated animals also tested as heterozygous.
CONCLUSIONS: The diagnosis of myophosphorylase deficiency was confirmed. The PCR-RFLP test is suitable for use in controlling this recessively-inherited disorder as it can diagnose heterozygous individuals that are otherwise clinically normal.
KEY WORDS: Myophosphorylase deficiency, glycogen, cattle, rhabdomyolysis, exercise intolerance, polymerase chain reaction, restriction fragment length polymorphism

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