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Start free with EleplanPyridoxine-dependent-developmental and epileptic encephalopathy
ORPHA:3006Disease
Also called Antiquitin deficiency · PD-DEE · Vitamin B6-dependent seizures
What it is
A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).
Key facts
- Prevalence
- 1-9 / 1 000 000 (at birth, Europe)
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
14- Early onset absence seizures
- EEG with burst suppression
- EEG with generalized slow activity
- Feeding difficulties
- Fetal distress
- Focal aware motor seizure
- Focal-onset seizure
- Hypoplasia of the corpus callosum
- Irritability
- Low APGAR score
- Neonatal respiratory distress
- Neurodevelopmental delay
- Prenatal movement abnormality
- Status epilepticus
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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