Living with Ornithine carbamoyltransferase deficiency
An inherited condition in which too much ammonia builds up in the blood and affects the nervous system.
Understanding Ornithine carbamoyltransferase deficiency
Ammonia is toxic at high levels and especially affects the nervous system. Signs include lack of energy and appetite, trouble controlling breathing rate and body temperature, unusual movements, seizures, or coma. This form occurs in both males and females. GARD lists onset as any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Lack of energy (lethargy) and drowsiness
- Poor appetite and poor suck
- Seizures
- Low body temperature
- Low muscle tone
- Avoiding protein foods
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in OTC are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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
- 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
Changes in the OTC gene cause this condition. It is inherited in an X-linked way.
Also known as: deficiency of citrulline phosphorylase; deficiency of ornithine carbamoyltransferase; deficiency of ornithine transcarbamylase; oct (ornithine carbamoyltransferase) deficiency; oct deficiency; ornithine carbamoyltransferase deficiency disease
Patient organizations
- National Urea Cycle Disorders FoundationOrnithine carbamoyltransferase deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Ornithine carbamoyltransferase deficiency.
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