Living with Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
A rare condition present from birth in which part of the pancreas makes too much insulin, causing repeated low blood sugar.
Understanding Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
It causes repeated episodes of low blood sugar that do not respond to the drug diazoxide. The pancreas is affected in one focal area, and GARD says this can be cured by removing that part of the pancreas (selective partial pancreatectomy). Effects vary from no symptoms to coma or long seizures from low blood sugar. GARD lists onset in the newborn or infant period.
Signs & symptoms
GARD doesn't list a symptom list. Its summary describes these features:
- Repeated low blood sugar
- Large size at birth (macrosomia)
- Enlarged liver
- Seizures or coma from low blood sugar
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
Changes in the ABCC8 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency; hyperinsulinemic hypoglycemia due to sur1 deficiency, diazoxide-resistant focal form
Patient organizations
- Congenital Hyperinsulinism InternationalDiazoxide-resistant focal hyperinsulinism due to SUR1 deficiency · United States
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