Living with Hyperinsulinism due to UCP2 deficiency
A rare genetic condition with low blood sugar from extra insulin from the newborn period, often getting better on its own.
Understanding Hyperinsulinism due to UCP2 deficiency
It responds well to the medicine diazoxide. It is probably temporary and may go away on its own. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Large birth weight
- Agitation
- Drowsiness
- Fast heart rate and palpitations
- Pale skin and episodes of sweating
- Neurodevelopmental differences
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 and hormone specialists.
- 3Consider genetic testing
Changes in UCP2 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); Hormone specialists (endocrinologists)
- 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 Congenital Hyperinsulinism International
- 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 UCP2 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: hyperinsulinemic hypoglycemia due to ucp2 deficiency; hyperinsulinism due to ucp2 (uncoupling protein 2) deficiency; hyperinsulinism due to uncoupling protein 2 deficiency
Patient organizations
- Congenital Hyperinsulinism InternationalHyperinsulinism due to UCP2 deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Hyperinsulinism due to UCP2 deficiency.
Explore research for Hyperinsulinism due to UCP2 deficiency
Explore actively recruiting Hyperinsulinism due to UCP2 deficiency studies with HealthSpark.
Find actively recruiting studies for Hyperinsulinism due to UCP2 deficiency 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 Hyperinsulinism due to UCP2 deficiency 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 Hyperinsulinism due to UCP2 deficiency
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 Hyperinsulinism due to UCP2 deficiency 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.