Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review

Navarro-Abia, Virginia; Soriano-Ramos, María; Núñez-Enamorado, N; Camacho-Salas, Ana; Aragón, Ana Martínez de; Martín‐Hernández, Elena; Heras, Rogelio Simón-De Las

doi:10.1016/j.braindev.2017.12.005

Cited by 10 publications

(11 citation statements)

References 9 publications

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“…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. 26,[28][29][30][31][32][33][34]66,67 These studies have reported improvement in seizure control and development in many but not all subjects. Unfortunately, several outcome measures were used in these studies ranging from subjective parental reports to formal neurocognitive testing, which limits the use of a meta-analysis.…”

Section: General Principles Of Treatmentmentioning

confidence: 99%

“…The addition of a lysine‐restricted diet resulted in decreased accumulation of pipecolic acid, α‐AASA, and Δ 1 ‐P6C as well as noting improvement in both age‐appropriate skills and seizure management 26 . Subsequently, several observational studies have reported improved clinical outcomes following adjunct treatment with a lysine‐restricted diet, 27 pharmacologic doses of arginine, which acts as a competitive inhibitor of lysine transport, 28‐30 and a combination of pyridoxine, a lysine‐restricted diet, and arginine referred to as triple therapy 28,30‐34 . To standardize the nomenclature in this manuscript, we refer to these additional dietary treatment strategies as lysine reduction therapies.…”

Section: Introductionmentioning

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: Introductionmentioning

confidence: 99%

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

show abstract

“…Among them, p. Y345C and IVS11+1G>A has been reported in China only, while p. Y516C was reported in a few patients from other countries. 28 Mills et al 23 found that exons 4,6,9,11, and 14 seemed to be 'hot spots' in ALDH7A1 mutations, existing in 60 per cent of white patients. In our 31 Chinese patients, 77 per cent variants in ALDH7A1 were located in exon 11,12,14, and 17 or intron 9 and 11.…”

Section: Discussionmentioning

confidence: 99%

“…4 To date, more than 280 patients with PDE-ALDH7A and 27 with PDE-PLPBP have been reported. [4][5][6][7][8][9][10][11][12][13][14][15][16] Here, we report the clinical, electrophysiological, biochemical, and genetic spectrum of 33 patients with PDE from 31 unrelated families, including 12 patients (patient 1-6, patient 8-13) who were reported previously. [17][18][19] Thirty-one patients were PDE-ALDH7A1, and the other two patients were PDE-PLPBP.…”

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confidence: 94%

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Clinical and genetic features in pyridoxine‐dependent epilepsy: a Chinese cohort study

Jiao

Jin

Gong

et al. 2019

Develop Med Child Neuro

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ABBREVIATIONS a-AASA a-aminoadipic semialdehyde AED Antiepileptic drugs P6C Piperideine-6-carboxylic PDE Pyridoxine-dependent epilepsy PLP Pyridoxal 5 0 -phosphate AIM To characterize the clinical and genetic characteristics of a large cohort of patients with pyridoxine-dependent epilepsy (PDE). METHOD We retrospectively collected clinical and genetic information of 33 (15 males, 18 females; mean [SD] age 4y 11mo [2y 5mo]; 1y 3mo-10y 4mo) patients with PDE from 31 unrelated families at a single centre.RESULTS There were many types of seizures, with focal seizures in 32 cases. Dravet syndrome was suspected clinically in two patients. Electroencephalogram (EEG) was normal in seven patients at the initial stage and then in 17 patients during pyridoxine maintenance therapy. Genetic studies revealed 26 kinds of variants in ALDH7A1 and four in PLPBP with 18 variants unreported previously, and 48 ALDH7A1 variants were located in exon 11, 12, 14, and 17 or intron 9 and 11. In addition, three patients carried different exons deletion. Among these, seizures could be controlled for several years in one patient by levetiracetam monotherapy. Another patient remained seizure free for up to 7 months without therapy. All patients received oral pyridoxine treatment, with only one case (with exon 8-13 deletion) showing poor control. INTERPRETATION This study illustrates the range of clinical presentations and genetic causesin PDE, as well as responsiveness to antiepileptic drugs. A relationship between EEG and pyridoxine therapy could be seen in many cases. Seizure control was seen in all with pyridoxine monotherapy except for one patient.

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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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Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review

Cited by 10 publications

References 9 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

Clinical and genetic features in pyridoxine‐dependent epilepsy: a Chinese cohort study

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

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