Last update 01 Nov 2024

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Basic Info

Synonyms
EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED, Epileptic Encephalopathy, Neonatal, PNPO-Related, PNPO DEFICIENCY
+ [20]
Introduction
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.

Analysis

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