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Pyridoxal phosphate-responsive seizures

Disease 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.

ORPHA:79096

Classification level: Disorder
  • Synonym(s):
    • PNPO deficiency
    • PNPO-related neonatal epileptic encephalopathy
    • Pyridoxal phosphate-dependent seizures
    • Pyridoxamine 5'-oxidase deficiency
    • Pyridoxamine 5'-phosphate oxidase deficiency
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G40.8
  • ICD-11: 8A61.00
  • OMIM: 610090
  • UMLS: C1864723
  • MeSH: -
  • GARD: 10730
  • MedDRA: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012)

Detailed information

Guidelines

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.