Pyridoxamine 5-prime-phosphate oxidase deficiency

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: PNPO deficiency; PNPO-related neonatal epileptic encephalopathy; pyridoxamine 5-prime-phosphate oxidase deficiency; pyridoxine-5'-phosphate oxidase deficiency

Overview

Pyridoxal 5'-phosphate-dependent epilepsy is a rare condition; approximately 14 cases have been described so far. It is a condition that involves seizures beginning soon after birth or, in some cases, before birth.