Living with Hyperinsulinism-hyperammonemia syndrome
A rare genetic condition with extra insulin and high blood ammonia, causing low blood sugar after fasting or protein-rich meals.
Understanding Hyperinsulinism-hyperammonemia syndrome
Insulin is released in excess, and ammonia stays high over time. Low blood sugar episodes are set off by fasting or protein-rich meals. Epilepsy and learning problems can occur, and may relate to the high ammonia rather than low blood sugar. It usually responds to the medicine diazoxide. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures, including staring spells
- Global developmental delay
- Moderate intellectual disability
- Learning disability
- Attention problems
- Low blood sugar after protein or 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 GLUD1 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 GLUD1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: gdh hyperinsulinism; glud1 hyperinsulinism; glud1 related hyperinsulinism and hyperammonemia syndrome; glud1-related hyperinsulinism; glutamate dehydrogenase 1 hyperinsulinism; glutamate dehydrogenase 1 related hyperinsulinism and hyperammonemia syndrome
Patient organizations
- Congenital Hyperinsulinism InternationalHyperinsulinism-hyperammonemia syndrome · United States
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