Hereditary urea cycle abnormality

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Male urinary system

Urea cycle

Overview

Symptoms

Treatment

Prevention

Hereditary urea cycle abnormality

Alternative Names:

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

Symptoms:

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

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

Review Date: 3/13/2006
Reviewed By: Lamya Alarif, Ph.D., H.C.L.D., Immunology and Genetics Associates, McLean, VA. Review provided by VeriMed Healthcare Network.

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