Citrullinaemia in Friesian calves

Authors: Rammel CA, Gilmour ML, Thornton RN
Publication: New Zealand Veterinary Journal, Volume 39, Issue 4, pp 145-146, Dec 1991
Publisher: Taylor and Francis

Animal type: Cattle, Livestock, Production animal, Ruminant
Subject Terms: Biochemistry/chemistry, Nervous system/neurology, Inherited disease/conditions, Disease/defect, Clinical pathology, Diagnostic procedures, Congenital disease, Genetics, Metabolic disease, Neonatal
Article class: Clinical Communication

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Abstract: Six Friesian calves from a pedigree herd died or were killed within 1 week of birth because of progressive central nervous disease in which the only consistent lesion was cerebral oedema. The cause was citrullinaemia, resulting from an autosomally inherited dysfunction of the urea cycle enzyme arginosuccinate synthetase. Citrullinaemia was diagnosed by demonstrating markedly elevated concentrations of citrulline in the blood of one calf and in the cerebral spinal fluid of another. One of two sires used in the herd was a heterozygous carrier of the disease. Heterozygocity was demonstrated using a polymerase chain reaction/restriction endonuclease test designed to detect the genetic mutation that causes citrullinaemia in cattle.

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