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Early‐onset vitamin B(6)‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature
Vitamin B(6)‐dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal‐5′‐phosphate (PLP). While pathogenic variants in ALDH7A1 or PNPO genes account for most cases of these disorders, biallelic pathogenic variants in PLPBP h...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7932866/ https://www.ncbi.nlm.nih.gov/pubmed/33728241 http://dx.doi.org/10.1002/jmd2.12183 |
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author | Heath, Oliver Pitt, James Mandelstam, Simone Kuschel, Carl Vasudevan, Anand Donoghue, Sarah |
author_facet | Heath, Oliver Pitt, James Mandelstam, Simone Kuschel, Carl Vasudevan, Anand Donoghue, Sarah |
author_sort | Heath, Oliver |
collection | PubMed |
description | Vitamin B(6)‐dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal‐5′‐phosphate (PLP). While pathogenic variants in ALDH7A1 or PNPO genes account for most cases of these disorders, biallelic pathogenic variants in PLPBP have been shown to cause a form of early onset vitamin B(6)‐dependent epilepsy (EPVB6D). PLPBP is thought to play a role in the homeostatic regulation of vitamin B(6), by supplying PLP to apoenzymes while limiting side‐reaction toxicity related to excess unbound PLP. Neonatal‐onset intractable seizures that respond to pyridoxine and/or PLP are a predominant feature of EPVB6D in humans. Unlike other causes of vitamin B(6)‐dependent epilepsies; however, a specific biomarker for this disorder has yet to be identified. Here we present data from a premature infant found to have pathogenic variants in PLPBP and propose that prematurity may provide an additional clue for early consideration of this diagnosis. We discuss these findings in context of previously published genotypic, phenotypic, and metabolic data from similarly affected patients. |
format | Online Article Text |
id | pubmed-7932866 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-79328662021-03-15 Early‐onset vitamin B(6)‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature Heath, Oliver Pitt, James Mandelstam, Simone Kuschel, Carl Vasudevan, Anand Donoghue, Sarah JIMD Rep Case Reports Vitamin B(6)‐dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal‐5′‐phosphate (PLP). While pathogenic variants in ALDH7A1 or PNPO genes account for most cases of these disorders, biallelic pathogenic variants in PLPBP have been shown to cause a form of early onset vitamin B(6)‐dependent epilepsy (EPVB6D). PLPBP is thought to play a role in the homeostatic regulation of vitamin B(6), by supplying PLP to apoenzymes while limiting side‐reaction toxicity related to excess unbound PLP. Neonatal‐onset intractable seizures that respond to pyridoxine and/or PLP are a predominant feature of EPVB6D in humans. Unlike other causes of vitamin B(6)‐dependent epilepsies; however, a specific biomarker for this disorder has yet to be identified. Here we present data from a premature infant found to have pathogenic variants in PLPBP and propose that prematurity may provide an additional clue for early consideration of this diagnosis. We discuss these findings in context of previously published genotypic, phenotypic, and metabolic data from similarly affected patients. John Wiley & Sons, Inc. 2020-11-15 /pmc/articles/PMC7932866/ /pubmed/33728241 http://dx.doi.org/10.1002/jmd2.12183 Text en © 2020 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Reports Heath, Oliver Pitt, James Mandelstam, Simone Kuschel, Carl Vasudevan, Anand Donoghue, Sarah Early‐onset vitamin B(6)‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature |
title | Early‐onset vitamin B(6)‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature |
title_full | Early‐onset vitamin B(6)‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature |
title_fullStr | Early‐onset vitamin B(6)‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature |
title_full_unstemmed | Early‐onset vitamin B(6)‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature |
title_short | Early‐onset vitamin B(6)‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature |
title_sort | early‐onset vitamin b(6)‐dependent epilepsy due to pathogenic plpbp variants in a premature infant: a case report and review of the literature |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7932866/ https://www.ncbi.nlm.nih.gov/pubmed/33728241 http://dx.doi.org/10.1002/jmd2.12183 |
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