ArticleEpilepsy & behavior reports2020
Variable treatment response in a patient with pyridoxal
Article in Epilepsy & behavior reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Effectiveness of Pyridoxal-5'-Phosphate in PNPO Deficiency: A Systematic Review.Journal of inherited metabolic disease · 2025Pooled it
- Burden and severity of inherited monoamine neurotransmitter rare genetic disorders in India.Orphanet journal of rare diseases · 2026Review
- Late-onset drug-resistant epilepsy in pyridoxamine 5'-phosphate oxidase deficiency: a case report.Journal of medical case reports · 2024Article
- Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review.Children (Basel, Switzerland) · 2023Review
- A Rare Presentation Characterized by Epileptic Spasms inFrontiers in genetics · 2022Article
- Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.Clinical genetics · 2021Article
- Complexities of pyridoxine response in PNPO deficiency.Epilepsy & behavior reports · 2021Article
- Genome-Based Therapeutics: Era of Precision Medicine in Genetic Epilepsies and Epileptic Encephalopathies.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 6-year-old girl presented with history of infantile onset epileptic encephalopathy and developmental delay. She had polymorphic seizures that were refractory to regular anti-seizure medication. Incomplete control of seizures was achieved on starting pyridoxine, riboflavin and thiamine. Clinical exome sequencing done at 4 years revealed PNPO deficiency with a homozygous mutation in the highly conserved exon 3:c.352G > A p.Gly118R region of the gene. Thereafter, pyridoxine was weaned and pyridoxal phosphate was added with resultant refractory status epilepticus, which necessitated our approach to start pyridoxine and stop pyridoxal phosphate. With two antiseizure medication and three vitamins, she had improved seizure control. At 6 years of age an attempt to wean off riboflavin resulted in break through seizures. After restarting riboflavin along with pyridoxal phosphate, pyridoxine in low doses and two antiseizure medications, the child achieved good seizure control. Though partial responsiveness to pyridoxine with gene mutation in the exon 3: c.352G > A p. Gly118R is known, riboflavin dependence and transient worsening of seizures off pyridoxine has not been described to our knowledge. Our case highlights the importance of identifying the precise gene mutationsequence to properly identify variants relative to individual phenotypic expression, treatment responsivness and need for added vitamin supplementation.
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