Hereditary Urea Cycle Abnormality
Alternate Names : Abnormality of the Urea Cycle - Hereditary, Urea Cycle - Hereditary Abnormality
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Diagnosis & Tests
- elevated blood ammonia level
- abnormal pattern of blood and urine amino acids
- abnormal level of orotic acid in blood or urine
- normal level of acid in blood
- low level of enzyme activity in liver biopsy
- abnormal genetic test result, mutation(s) present in one of genes for the proteins of the urea cycle
- MRI of CT scan may show swelling of brain
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