Living with Hyperinsulinism due to HNF1A deficiency
A genetic condition with low blood sugar from extra insulin in infancy that later can become a form of diabetes.
Understanding Hyperinsulinism due to HNF1A deficiency
In infancy, extra insulin causes low blood sugar that may be short-term or lasting. Later in life, it can turn into a form of diabetes called maturity-onset diabetes of the young type 1 (MODY-1). 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
- Low muscle tone in newborns
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 HNF1A 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 HNF1A 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 hnf1a deficiency; hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency
Patient organizations
- Congenital Hyperinsulinism InternationalHyperinsulinism due to HNF1A deficiency · United States
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