Living with Pyridoxine-dependent epilepsy
A rare genetic seizure condition that starts in infancy or before birth and responds to high doses of vitamin B6.
Understanding Pyridoxine-dependent epilepsy
Seizures are often long (status epilepticus) and involve stiff muscles, convulsions, and loss of awareness. Other features can include low body temperature, poor muscle tone after birth, and irritability before a seizure. Usual seizure medicines are not effective. Instead, people are treated with large daily doses of pyridoxine, a type of vitamin B6. Even when seizures are controlled, developmental delay and learning problems may still occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures, including long ones (status epilepticus)
- Irritability
- Feeding difficulties
- Breathing difficulty in newborns
- Delays in development
- Unusual movements 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 and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in ALDH7A1 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
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: 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 Organic Acidemia Association 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
This condition is caused by changes in the ALDH7A1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: antiquitin deficiency; epeo4; epilepsy, early-onset, 4, vitamin b6-dependent; pd-dee - pyridoxine-dependent developmental and epileptic encephalopathy; pyridoxine dependency with seizures; pyridoxine-dependent dee (developmental and epileptic encephalopathy)
Patient organizations
- Organic Acidemia AssociationPyridoxine-dependent epilepsy · United States
- CurePDEPyridoxine-dependent epilepsy · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Pyridoxine-dependent epilepsy.
Explore research for Pyridoxine-dependent epilepsy
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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