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Article

Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.

Neuromuscular disorders : NMD - 1 Jul 2020

Keller Natalie, Mendoza-Ferreira Natalia, Maroofian Reza, Chelban Viorica, Khalil Youssef, Mills Philippa B, Boostani Reza, Torbati Paria Najarzadeh, Karimiani Ehsan Ghayoor, Thiele Holger, Houlden Henry, Wirth Brunhilde, Karakaya Mert

Abstract excerpt

PDXK encodes for a pyridoxal kinase, which converts inactive B6 vitamers to the active cofactor pyridoxal 5'-phosphate (PLP). Recently, biallelic pathogenic variants in PDXK were shown to cause axonal Charcot-Marie-Tooth disease with optic atrophy that responds to PLP supplementation. We present two affected siblings carrying a novel biallelic missense PDXK variant with a similar phenotype with earlier onset....

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Identifiers

PMID: 32522499
DOI: 10.1016/j.nmd.2020.04.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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