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Review

Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures

1
Students’ Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland
2
Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland
*
Author to whom correspondence should be addressed.
Brain Sci. 2022, 12(1), 65; https://doi.org/10.3390/brainsci12010065
Submission received: 6 December 2021 / Revised: 25 December 2021 / Accepted: 29 December 2021 / Published: 31 December 2021
(This article belongs to the Section Neuropsychiatry)

Abstract

Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive neurometabolic disorder due to a deficiency of α-aminoadipic semialdehyde dehydrogenase (mutation in ALDH7A1 gene), more commonly known as antiquitin (ATQ). ATQ is one of the enzymes involved in lysine oxidation; thus, its deficiency leads to the accumulation of toxic metabolites in body fluids. PDE is characterized by persistent, recurrent neonatal seizures that cannot be well controlled by antiepileptic drugs but are responsive clinically and electrographically to daily pyridoxine (vitamin B6) supplementation. Although the phenotypic spectrum distinguishes between typical and atypical, pyridoxine-dependent is true for each. Diagnosis may pose a challenge mainly due to the rarity of the disorder and the fact that seizures may not occur until childhood or even late adolescence. Moreover, patients may not demonstrate an obvious clinical or electroencephalography response to the initial dose of pyridoxine. Effective treatment requires lifelong pharmacologic supplements of pyridoxine, and dietary lysine restriction and arginine enrichment should improve prognosis and avoid developmental delay and intellectual disability. The purpose of this review is to summarize briefly the latest reports on the etiology, clinical symptoms, diagnosis, and management of patients suffering from pyridoxine-dependent epilepsy.
Keywords: pyridoxine-dependent epilepsy; seizures; inborn errors of metabolism; metabolic epilepsy; ALDH7A1 pyridoxine-dependent epilepsy; seizures; inborn errors of metabolism; metabolic epilepsy; ALDH7A1

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MDPI and ACS Style

Kaminiów, K.; Pająk, M.; Pająk, R.; Paprocka, J. Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures. Brain Sci. 2022, 12, 65. https://doi.org/10.3390/brainsci12010065

AMA Style

Kaminiów K, Pająk M, Pająk R, Paprocka J. Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures. Brain Sciences. 2022; 12(1):65. https://doi.org/10.3390/brainsci12010065

Chicago/Turabian Style

Kaminiów, Konrad, Magdalena Pająk, Renata Pająk, and Justyna Paprocka. 2022. "Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures" Brain Sciences 12, no. 1: 65. https://doi.org/10.3390/brainsci12010065

APA Style

Kaminiów, K., Pająk, M., Pająk, R., & Paprocka, J. (2022). Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures. Brain Sciences, 12(1), 65. https://doi.org/10.3390/brainsci12010065

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