Pyridoxal 5 Phosphate Dependent Epilepsy [ICNApedia]

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PNPO deficiency https://www.omim.org/entry/603287) is an autosomal recessive inborn error of metabolism that leads to a seizure disorder, presenting in the newborn period (neonatal epileptic encephalopathy) or early infancy, that can be treated with pyridoxal 5’-phosphate but (classically) not pyridoxine.

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