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Start free with EleplanPyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
ORPHA:79096Disease
Also called P5PD-DEE · PNPO-related neonatal epileptic encephalopathy · Pyridoxal phosphate-dependent seizures · Pyridoxal phosphate-responsive seizures · Pyridoxamine 5'-phosphate oxidase deficiency
What it is
A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- 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%
20- Abnormality of eye movement
- Abnormality of the amniotic fluid
- Axial hypotonia
- Decreased CSF homovanillic acid concentration
- EEG with burst suppression
- Failure to thrive
- Feeding difficulties
- Global brain atrophy
- Global developmental delay
- High-pitched cry
- Hypertonia
- Hypoargininemia
- Hypoglycemia
- Increased circulating lactate concentration
- Low APGAR score
- Metabolic acidosis
- Myoclonus
- Premature birth
- Seizure
- Unsteady gait
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.
Gene
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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