Living with Pyridoxal phosphate-responsive seizures
A rare genetic condition with seizures starting in the first weeks of life that respond to vitamin B6 treatment.
Understanding Pyridoxal phosphate-responsive seizures
In about 10% of people, seizures start later, after the first month. Seizures can involve muscle jerks, odd eye movements, or convulsions, and some babies have them before birth. Usual seizure medicines are not effective. Instead, people need lifelong treatment with a form of vitamin B6, either PLP or pyridoxine. Even when seizures are controlled, some people may still have developmental delay, learning problems, and movement problems like dystonia.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures, including long ones (status epilepticus)
- Muscle jerks (myoclonus)
- Odd eye movements
- Feeding difficulties and slow weight gain
- Delays in development
- High-pitched cry and stiff muscles
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 PNPO 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 Epilepsy Foundation
- 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 PNPO gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: epileptic encephalopathy, neonatal, pnpo-related; p5pd developmental and epileptic encephalopathy; p5pd-dee - pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy; pnpo deficiency; pnpo-dee - pyridoxamine 5-phosphate oxidase developmental and epileptic encephalopathy; pnpo-related neonatal epileptic encephalopathy
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pyridoxal phosphate-responsive seizures.
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