Case Report: PLPHP Deficiency, a Rare but Important Cause of B6-responsive Disorders: A Report of Three Novel Individuals and Review of 51 Cases

Overview

Journal Front Neurol

Specialty Neurology

Date 2022 Nov 3

PMID 36324377

Authors

Sarah Alsubhi

Bradley Osterman

Nicolas Chrestian

Francois Dubeau

Daniela Buhas

Myriam Srour

Affiliations

Soon will be listed here.

Abstract

PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in and is a rare cause of pyridoxine-responsive disorders. We describe three French-Canadian individuals with PLPHP deficiency, including one with unusual paroxysmal episodes lacking EEG correlation with a suspicious movement disorder, rarely reported in B6RDs. In addition, we review the clinical features and treatment responses of all 51 previously published individuals with PLPHP deficiency. Our case series underlines the importance of considering mutations in individuals with partially B6-responsive seizures and highlights the presence of a founder effect in the French-Canadian population.

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