| 英文描述 | Citrullinemia is a rare inborn error of metabolism of the urea cycle; hyperammonemia results due to abnormal urea cycle function. Clinical disease is seen in homozygous recessive animals. The finding of markedly elevated plasma citrulline without elevated arginosuccinic acid is pathognomonic of citrullinemia due to arginosuccinate synthetase deficiency. Fresian calves, normal at birth, developed acute neurological signs at 1-7 days of age; citrulline concentrations in blood, cerebrospinal fluid, eye fluid, and cerebral tissue were greatly elevated. The pathologic findings, primarily cerebral edema, were similar in all cases. The hereditary nature of this condition was confirmed. There is no treatment. |
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