Living with Autosomal dominant hyperinsulinism due to SUR1 deficiency
A milder inherited form of hyperinsulinism, with low blood sugar episodes that respond well to diazoxide.
Understanding Autosomal dominant hyperinsulinism due to SUR1 deficiency
It causes episodes of low blood sugar (hypoglycemia) that are usually mild and may go unnoticed in infancy. It usually responds well to the medicine diazoxide. It is milder than forms caused by recessive potassium channel changes. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low blood sugar episodes
- Drowsiness
- Agitation
- Paleness and fast heartbeat
- Sweating
- Larger-than-average size at birth
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 ABCC8 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
GARD says changes in the ABCC8 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency; autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency
Patient organizations
- Congenital Hyperinsulinism InternationalAutosomal dominant hyperinsulinism due to SUR1 deficiency · United States
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