Living with Hyperinsulinism due to INSR deficiency
A very rare inherited condition that causes low blood sugar after meals, seen in one family so far.
Understanding Hyperinsulinism due to INSR deficiency
People have low blood sugar after eating, high insulin when fasting, and a raised insulin-to-C peptide ratio on blood tests. The age at which it begins varies, from teens to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fatigue
- Seizures
- Low blood sugar after meals
- High insulin when fasting
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 INSR 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 INSR 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 insr deficiency; hyperinsulinemic hypoglycemia due to insulin receptor deficiency; hyperinsulinemic hypoglycemia, familial, type 5; hyperinsulinism due to glutamodehydrogenase deficiency
Patient organizations
- Congenital Hyperinsulinism InternationalHyperinsulinism due to INSR deficiency · United States
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Perspectives from people navigating life with Hyperinsulinism due to INSR deficiency.
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