Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature
Open accessAbstract
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive enzyme defect in the vitamin B6 metabolism characterized by intractable seizures which are usually resistant to all antiepileptic drugs but respond to pharmacological doses of pyridoxine. We present the clinical and molecular genetic findings of two patients with c.1597_1597delG mutations in ALDH7A1 gene. There are different clinical phenotypes in PDE: patients with complete seizure control with pyridoxine and normal development (group 1), patients with complete seizure control with pyridoxine and development delay (group 2), and patients with persistent seizures despite pyridoxine treatment and with development delay (group 3). Our two patients have persistant seizure despite pyridoxine treatment and with development delay. Pyridoxine-dependent epilepsy can be identified in any neonate with signs of encephalopathy and refractory seizures, with no evidence of hypoxic-ischemic damage or other underlying metabolic disturbance. Neurodevelopmental outcomes of patients with PDE is multifactorial; early diagnosis and treatment of these patients is vital.
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Severe pyridoxine deficiency causes disturbed neurologic functions, such as convulsive epileptic seizures, irritability and depression.
“During severe pyridoxine (vitamin B6) deficiency, disturbed neurologic functions, such as convulsive epileptic seizures and irritability and depression, are observed [146].”
From Vitamins and Minerals for Energy, Fatigue and Cognition: A Narrative Review of the Biochemical and Clinical Evidence (2020) · cites this paper as [146]
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- Authors
- Gül Mert, G., İncecik, F., Hergüner, M. Ö., Ceylaner, S., & Altunbaşak, Ş.
- Affiliations
- Division of Pediatric Neurology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey
- Cukurova University (TR)
- Intergen (Turkey) (TR)
- Venue
- The Turkish Journal of Pediatrics
- Published
- 2015-08-25
- Volume
- 57
- Issue
- 4
- Pages
- 394-397
- ISSN
- 0041-4301 (ISSN-L)
- 2791-6421
- OpenAlex
- W7172223782
- Cited by
- 9
- References
- 0
- Citations by year
- 2024: 1 · 2023: 1 · 2022: 2 · 2020: 2 · 2018: 1 · 2017: 1
- FWCI
- 0.55
- Type
- journal article
- Language
- en
- Open access
- diamond
- doi.org
- Locations
- The Turkish Journal of Pediatrics (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- PubMed
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- pyridoxine-dependent epilepsy, ALDH7A1, pyridoxine, vitamin B6 metabolism, refractory seizures, developmental delay, neurodevelopmental outcomes, neonatal encephalopathy, early diagnosis
- MeSH terms
- Aldehyde Dehydrogenase, Anticonvulsants, Child, Developmental Disabilities, Child, Preschool, Epilepsy, Female, Humans, Male, Mutation, Phenotype, Pyridoxine, Turkey
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