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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...

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Autores principales: Heath, Oliver, Pitt, James, Mandelstam, Simone, Kuschel, Carl, Vasudevan, Anand, Donoghue, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
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.
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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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