Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child

Younes, Thouraya Ben; Kraoua, Ichraf; Benrhouma, H.; Nasrallah, Fahmi; Achour, N. Ben; Klaa, Hedia; Hassen-Rouissi, A.; Drissi, C.; Benoist, Jean‐François; Youssef–Turki, Ilhem Ben

doi:10.1016/j.arcped.2016.11.019

Cited by 7 publications

(6 citation statements)

References 8 publications

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“…9 Descriptive studies have reported patients with PDE-ALDH7A1 who died before pyridoxine was provided. 34,59,60 Furthermore, the withdrawal of pyridoxine has been associated with recurrence of seizures, [61][62][63][64][65] underscoring the necessity of pyridoxine in the treatment of PDE-ALDH7A1. The association between lysine reduction therapies and neurologic outcomes has been reported in a total of 10 observational studies describing 27 individual patients with PDE-ALDH7A1.…”

Section: General Principles Of Treatmentmentioning

confidence: 99%

“…Descriptive studies have reported patients with PDE‐ALDH7A1 who died before pyridoxine was provided 34,59,60 . Furthermore, the withdrawal of pyridoxine has been associated with recurrence of seizures, 61‐65 underscoring the necessity of pyridoxine in the treatment of PDE‐ALDH7A1.Statement Lysine reduction therapies have been associated with improved long‐term neurologic outcomes. Therapies include pyridoxine supplementation in combination with a lysine‐restricted diet or arginine supplementation and a combination of all three (ie, triple therapy)…”

Section: Recommendationsmentioning

confidence: 99%

Section: General Principles Of Treatmentmentioning

confidence: 99%

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Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Coughlin

Tseng

Abdenur

et al. 2020

J of Inher Metab Disea

130

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Pyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is an autosomal recessive condition due to a deficiency of α‐aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE‐ALDH7A1 is a developmental and epileptic encephalopathy that was historically and empirically treated with pharmacologic doses of pyridoxine. Despite adequate seizure control, most patients with PDE‐ALDH7A1 were reported to have developmental delay and intellectual disability. To improve outcome, a lysine‐restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy. These lysine‐reduction therapies have resulted in improved biochemical parameters and cognitive development in many but not all patients. The goal of these consensus guidelines is to re‐evaluate and update the two previously published recommendations for diagnosis, treatment, and follow‐up of patients with PDE‐ALDH7A1. Members of the International PDE Consortium initiated evidence and consensus‐based process to review previous recommendations, new research findings, and relevant clinical aspects of PDE‐ALDH7A1. The guideline development group included pediatric neurologists, biochemical geneticists, clinical geneticists, laboratory scientists, and metabolic dieticians representing 29 institutions from 16 countries. Consensus guidelines for the diagnosis and management of patients with PDE‐ALDH7A1 are provided.

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Section: General Principles Of Treatmentmentioning

confidence: 99%

Section: Recommendationsmentioning

confidence: 99%

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Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Coughlin

Tseng

Abdenur

et al. 2020

J of Inher Metab Disea

130

View full text Add to dashboard Cite

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“…The spectrum of mutations differs among populations. Recently, a novel mutation (c.393+1G>A) was identified in a Tunisian boy [ 46 ]. One of the characteristic symptoms is the presence of lysine metabolites in blood.…”

Section: Resultsmentioning

confidence: 99%

Corpus Callosum Agenesis: An Insight into the Etiology and Spectrum of Symptoms

et al. 2020

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Brain hemispheres are connected by commissural structures, which consist of white matter fiber tracts that spread excitatory stimuli to various regions of the cortex. This allows an interaction between the two cerebral halves. The largest commissure is the corpus callosum (CC) which is located inferior to the longitudinal fissure, serving as its lower border. Sometimes this structure is not completely developed, which results in the condition known as agenesis of the corpus callosum (ACC). The aim of this paper was to review the latest discoveries related to the genetic and metabolic background of ACC, including the genotype/phenotype correlations as well as the clinical and imaging symptomatology. Due to various factors, including genetic defects and metabolic diseases, the development of CC may be impaired in many ways, which results in complete or partial ACC. This creates several clinical implications, depending on the specificity of the malformation and other defects in patients. Epilepsy, motor impairment and intellectual disability are the most prevalent. However, an asymptomatic course of the disease is even more common. ACC presents with characteristic images on ultrasound and magnetic resonance imaging (MRI).

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“…PDE is historically defined based on the resolution of seizures following treatment with pharmacologic doses of pyridoxine, 1 and treatment with pyridoxine remains central to the treatment of the epilepsy that has defined this disorder. The importance of vitamin B 6 supplementation is highlighted by the recurrence of seizures following pyridoxine withdrawal [66][67][68][69][70] and case reports that describe patients who died before pyridoxine was administered. 21,37,38 As noted above, patients with PDE-ALDH7A1 have a secondary deficiency of PLP most likely due to a Knoevenagel reaction between the accumulating Δ 1 -P6C and PLP.…”

Section: Pyridoxine Supplementationmentioning

confidence: 99%

Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research

Coughlin

Gospe

2023

Annals of the Child Neurology Society

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Pyridoxine-dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re-emergence of seizures after withdrawal of pyridoxine. Research conducted over the last seven decades has revealed that the phenotype of PDE results from multiple genetic disorders, and the most common disorder, PDE-ALDH7A1, is caused by a deficiency of an enzyme involved in lysine metabolism. PDE-ALDH7A1 is characterized by more than epilepsy, as many patients have abnormalities of brain development, and most patients have intellectual and developmental disability. Treatment aimed at the underlying metabolic defect, in addition to pyridoxine supplementation, has improved clinical outcomes. Recently discovered biomarkers and genetic testing allow for the diagnosis of PDE-ALDH7A1 without the need of a pyridoxine trial and hold the promise for newborn screening. Despite these many advances, PDE-ALDH7A1 remains a clinical and biochemical conundrum. The increasing use of model systems and an international collaboration of clinician-scientists are among the reasons to be optimistic that these questions will be answered in the near future and that the clinical outcomes and quality of life will continue to improve for patients with PDE-ALDH7A1.

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Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child

Cited by 7 publications

References 8 publications

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Corpus Callosum Agenesis: An Insight into the Etiology and Spectrum of Symptoms

Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research

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