Pyridoxal phosphate-responsive seizures

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Pyridoxal phosphate-responsive seizures

Synonyms: PNPO deficiency | PNPO-related neonatal epileptic encephalopathy | Pyridoxal phosphate-dependent seizures | Pyridoxamine 5'-oxidase deficiency | Pyridoxamine 5'-phosphate oxidase deficiency

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Pyridoxal phosphate-responsive seizures?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.