Living with Hyperinsulinism due to glucokinase deficiency
A genetic condition with too much insulin and repeated low blood sugar, from mild to severe, that may later lead to type 2 diabetes.
Understanding Hyperinsulinism due to glucokinase deficiency
The extra insulin does not match blood sugar levels. People have repeated episodes of low blood sugar after fasting and after meals rich in sugar. Some cases are mild and respond to diet changes and a medicine called diazoxide. Severe cases do not respond to diazoxide. Type 2 diabetes may develop later in life. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fatigue
- Hand tremor
- Muscle weakness
- Seizures
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 GCK 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 GCK gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: gck-related hyperinsulinism; hhf3; hyperinsulinemic hypoglycemia due to glucokinase deficiency; hyperinsulinemic hypoglycemia, familial, type 3
Patient organizations
- Congenital Hyperinsulinism InternationalHyperinsulinism due to glucokinase deficiency · United States
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