Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
ORPHA:79096· ICD-10 G40.8
Definition
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal