Hereditary urea cycle abnormality

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Male urinary system

Urea cycle

Abnormality of the urea cycle - hereditary; Urea cycle - hereditary abnormality

• disliking protein-containing foods
• decreased food intake
• nausea, vomiting
• change in clarity of mind, confusion
• increased sleepiness, difficulty arousing person
• coma

• 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 the genes for the proteins of the urea cycle
• MRI or CT scan may show swelling of brain

Review Date: 03/13/2006
Reviewed By: Lamya Alarif, Ph.D., H.C.L.D., Immunology and Genetics Associates, McLean, VA. Review provided by VeriMed Healthcare Network.