Complex vertebral malformation
The disease is caused by a mutation in guanine substitution by thymine (G>T) in the solute carrier family 35 member A3 gene.
Clinical signs associated with CVM includes abortion, premature births and stillborn calves. In affected calves which survive, poor weight growth and multiple deformities can be observed, such as misshapen spine, tendon contractures and cardiac deformities. Additonal signs have also been noted, including partial hypoplasia of the lung, excessive liver segmentation, doubled gall bladder, rectal atresia, horseshoe kidney, and uterine atresia.
Diagnosis is based on PCR analysis of suspect cases and for screening of potential sires.
A differential diagnosis would include other causes of abortion and neurological signs such as bovine epizootic abortion, listeriosis, epizootic encephalomyelitis, sporadic bovine encephalomyelitis, Aino virus, rabies and toxoplasmosis.
Treatment is usually unsuccessful. It is recommended to cull the CVM carriers gradually for economical and breeding reasons.
As artificial insemination is widely used in dairy cattle breeding, carriers of citrullinemia are likely present within the population of breeding sires. It is recommended to screen breeding sires for these defective genes in order to avoid an unwanted spread within the population.
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