Living with Bifunctional peroxisomal enzyme deficiency
A rare genetic condition that affects the nervous system from infancy, causing weak muscle tone and seizures.
Understanding Bifunctional peroxisomal enzyme deficiency
Newborns have weak muscle tone (hypotonia) and seizures. Most babies gain few developmental skills, and some who gain early skills lose them within months. Later, reflexes and muscle tone may increase, seizures may worsen, and vision and hearing may be lost. Some people are less severely affected. Features can include a high forehead, widely spaced eyes, and an enlarged liver.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in development
- Seizures
- Hearing loss
- Enlarged liver
- Slow weight gain (failure to thrive)
- Distinct facial features, such as a high forehead
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.
- 3Consider genetic testing
Changes in HSD17B4 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 Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: United Leukodystrophy 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 Global Foundation for Peroxisomal Disorders 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 the HSD17B4 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: bifunctional enzyme deficiency; d-bifunctional enzyme deficiency; d-bifunctional protein deficiency; dbif; dbp deficiency; hsd17b4 deficiency
Patient organizations
- Global Foundation for Peroxisomal DisordersBifunctional peroxisomal enzyme deficiency · United States
- United Leukodystrophy FoundationBifunctional peroxisomal enzyme deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Bifunctional peroxisomal enzyme deficiency.
Explore research for Bifunctional peroxisomal enzyme deficiency
Explore actively recruiting Bifunctional peroxisomal enzyme deficiency studies with HealthSpark.
Find actively recruiting studies for Bifunctional peroxisomal enzyme deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Bifunctional peroxisomal enzyme deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Bifunctional peroxisomal enzyme deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Bifunctional peroxisomal enzyme deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.