Overview
Hyperinsulinism due to HNF1A deficiency is a rare genetic condition where the body produces too much insulin, the hormone that lowers blood sugar. This happens because of changes (mutations) in the HNF1A gene, which normally helps control how the pancreas releases insulin. When this gene does not work properly, the pancreas releases insulin even when blood sugar levels are already low, leading to episodes of hypoglycemia (low blood sugar). This condition is also sometimes referred to as HNF1A-related hyperinsulinism or HNF1A-hyperinsulinemic hypoglycemia. Symptoms can vary but often include episodes of low blood sugar that may cause shakiness, sweating, confusion, irritability, seizures, and in severe cases, loss of consciousness. These episodes can be dangerous if not treated quickly, especially in young children whose developing brains are particularly vulnerable to low blood sugar. The age when symptoms first appear can vary — some people develop problems in infancy or childhood, while others may not be diagnosed until later. Treatment focuses on preventing dangerously low blood sugar levels. This may include dietary changes such as frequent meals and snacks, medications like diazoxide that help reduce insulin release, and in some cases other drugs. Importantly, people with HNF1A mutations may also be at risk for developing a form of diabetes (known as MODY3 or maturity-onset diabetes of the young) later in life, so long-term monitoring is essential. Early diagnosis and proper management can significantly improve outcomes and quality of life.
Also known as:
Key symptoms:
Episodes of low blood sugar (hypoglycemia)Shakiness or tremblingExcessive sweatingConfusion or difficulty concentratingIrritability or mood changesExtreme hungerSeizuresLoss of consciousness or faintingPale skin during episodesFatigue or drowsinessDifficulty waking up from sleepBlurred vision during low blood sugar episodesRapid heartbeat
Clinical phenotype terms (30)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Hyperinsulinism due to HNF1A deficiency.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Caregiver Resources
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Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my (or my child's) hyperinsulinism, and what blood sugar levels should I watch for?,Is diazoxide the right medication, and what side effects should I look out for?,How often should blood sugar be monitored at home?,What is the emergency plan if blood sugar drops dangerously low?,Should other family members be tested for the HNF1A gene change?,What is the risk of developing diabetes later in life, and how will we monitor for it?,Are there any dietary guidelines or meal plans that can help prevent low blood sugar episodes?
Common questions about Hyperinsulinism due to HNF1A deficiency
What is Hyperinsulinism due to HNF1A deficiency?
Hyperinsulinism due to HNF1A deficiency is a rare genetic condition where the body produces too much insulin, the hormone that lowers blood sugar. This happens because of changes (mutations) in the HNF1A gene, which normally helps control how the pancreas releases insulin. When this gene does not work properly, the pancreas releases insulin even when blood sugar levels are already low, leading to episodes of hypoglycemia (low blood sugar). This condition is also sometimes referred to as HNF1A-related hyperinsulinism or HNF1A-hyperinsulinemic hypoglycemia. Symptoms can vary but often include e
How is Hyperinsulinism due to HNF1A deficiency inherited?
Hyperinsulinism due to HNF1A deficiency follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.