Living with Hyperinsulinemic hypoglycemia, familial, 4
A genetic condition in which the body can't turn certain fats into energy, causing high insulin and low blood sugar.
Understanding Hyperinsulinemic hypoglycemia, familial, 4
It causes sensitivity to insulin and low blood sugar (hypoglycemia). It usually begins in infancy or early childhood. Signs often start with poor appetite, vomiting, diarrhea, and low energy. People may also have low muscle tone, liver problems, and seizures. Fasting or illnesses such as viral infections can trigger health problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low blood sugar (hypoglycemia)
- Low energy (lethargy)
- Vomiting and diarrhea
- Low muscle tone in newborns
- Confusion
- Slow growth before birth
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 brain and nervous system specialists, genetic specialists, hormone specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in HADH are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation, MitoAction and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction, Epilepsy Foundation
- 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 United Mitochondrial Disease Foundation and other patient organizations
- 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 both copies of the HADH gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hadh hyperinsulinemic hypoglycemia (disease); hadh-related hyperinsulinism; hhf4; hyperinsulinemic hypoglycemia (disease) caused by mutation in hadh; hyperinsulinemic hypoglycemia due to hadh deficiency; hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency
Patient organizations
- United Mitochondrial Disease FoundationHyperinsulinemic hypoglycemia, familial, 4 · United States
- Congenital Hyperinsulinism InternationalHyperinsulinemic hypoglycemia, familial, 4 · United States
- MitoActionHyperinsulinemic hypoglycemia, familial, 4 · United States
- FOD (Fatty Oxidation Disorder) Family Support GroupHyperinsulinemic hypoglycemia, familial, 4 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Hyperinsulinemic hypoglycemia, familial, 4.
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