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Article

Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.

Pediatric neurology - 1 Nov 2017

Guerriero Réjean M, Patel Archana A, Walsh Brian, Baumer Fiona M, Shah Ankoor S, Peters Jurriaan M, Rodan Lance H, Agrawal Pankaj B, Pearl Phillip L, Takeoka Masanori

Abstract excerpt

OBJECTIVE: Pyridoxine is converted to its biologically active form pyridoxal-5-phosphate (P5P) by the enzyme pyridox(am)ine 5'-phosphate oxidase and serves as a cofactor in nearly 200 reactions in the central nervous system. Pyridox(am)ine 5'-phosphate oxidase deficiency leads to P5P dependent epilepsy, typically a neonatal- or infantile-onset epileptic encephalopathy treatable with P5P or in some cases,...

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Identifiers

PMID: 28985901
DOI: 10.1016/j.pediatrneurol.2017.05.024
PMCID: PMC6008785

Genes

PNPO

Variants

Provenance

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