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Article

Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.

Molecular genetics and metabolism - 1 Sept 2017

di Salvo Martino L, Mastrangelo Mario, Nogués Isabel, Tolve Manuela, Paiardini Alessandro, Carducci Carla, Mei Davide, Montomoli Martino, Tramonti Angela, Guerrini Renzo, Contestabile Roberto, Leuzzi Vincenzo

Abstract excerpt

BACKGROUND: Pyridoxal-5'-phosphate oxidase (PNPO) deficiency presents as a severe neonatal encephalopathy responsive to pyridoxal-5'-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected genetic variants on PNPO gene whose pathogenic role and clinical expression remain to be established. OBJECTIVE: This paper aims to characterize the functional effects of the c.347G>A...

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Source

Identifiers

PMID: 28818555
DOI: 10.1016/j.ymgme.2017.08.003

Genes

PNPO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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