Living with Disorder of the urea cycle metabolism
A rare genetic condition in which the body cannot clear ammonia, a waste product of protein breakdown.
Understanding Disorder of the urea cycle metabolism
One of the enzymes in the urea cycle does not work properly. So ammonia is not changed into urea to leave in the urine and instead builds up in the blood. This can harm the brain. How severe it is depends on how much enzyme activity remains.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary says high ammonia can affect the brain.
- High ammonia in the blood (hyperammonemia)
- Brain injury from high ammonia
- Coma
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Urea Cycle Disorders Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. One of the enzymes in the urea cycle does not work properly.
Also known as: disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia; disorder of urea cycle; disorder of urea cycle metabolism; disorder of urea cycle metabolism and ammonia detoxification; inborn disorder of urea cycle metabolism and ammonia detoxification; inborn urea cycle disorder
Patient organizations
- National Urea Cycle Disorders FoundationDisorder of the urea cycle metabolism · United States
- flokDisorder of the urea cycle metabolism · United States
You are more than your diagnosis
Perspectives from people navigating life with Disorder of the urea cycle metabolism.
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