Living with Autosomal recessive hyperinsulinism due to SUR1 deficiency
A rare inherited condition in which a newborn's body makes too much insulin, causing very low blood sugar.
Understanding Autosomal recessive hyperinsulinism due to SUR1 deficiency
Severe low blood sugar (hypoglycemia) appears in the first two days of life and does not respond well to medicine. Sometimes part of the pancreas needs to be removed. Newborns are often large for their age. Later in life, persistent low blood sugar, high blood sugar, or type 1 diabetes may develop. Low blood sugar can lead to coma or prolonged seizures.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. The summary describes these features:
- Very low blood sugar soon after birth
- Large size for gestational age
- Mild to moderate enlarged liver
- Low blood sugar that does not respond well to medicine
- High blood sugar or diabetes later in life (may occur)
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
It is caused by changes in the ABCC8 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive hyperinsulinemic hypoglycemia due to sur1 deficiency; autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency
Patient organizations
- Congenital Hyperinsulinism InternationalAutosomal recessive hyperinsulinism due to SUR1 deficiency · United States
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