Living with Congenital hyperammonemia, type I
An inherited condition (CPS I deficiency) in which ammonia builds up in the blood, which can affect the brain.
Understanding Congenital hyperammonemia, type I
Ammonia forms when proteins break down and is harmful in high amounts, especially to the brain. In the first days of life, babies may be unusually sleepy, refuse feeding, vomit, have unusual movements or seizures. Symptoms can come back during infections or stress, or if diet is not carefully managed. Some people have milder symptoms that appear later in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Breathing problems (respiratory insufficiency)
- Seizures
- Unusual sleepiness and refusing to feed
- Vomiting after feeding
- Developmental delay and intellectual disability
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.
- 3Consider genetic testing
Changes in CPS1 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
- 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
It is caused by changes in the CPS1 gene. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: carbamoyl phosphate synthetase 1 deficiency; carbamoyl phosphate synthetase deficiency; carbamoyl phosphate synthetase i deficiency disease; carbamoyl-phosphate synthase deficiency disease; carbamoyl-phosphate synthase i deficiency; carbamoyl-phosphate synthetase 1 deficiency
Patient organizations
- National Urea Cycle Disorders FoundationCongenital hyperammonemia, type I · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital hyperammonemia, type I.
Explore research for Congenital hyperammonemia, type I
Explore actively recruiting Congenital hyperammonemia, type I studies with HealthSpark.
Find actively recruiting studies for Congenital hyperammonemia, type I with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Congenital hyperammonemia, type I studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Congenital hyperammonemia, type I
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Congenital hyperammonemia, type I experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.