Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation()

We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative. Mutation analysis of the PNPO gene revealed a nove...

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Detalles Bibliográficos
Autores principales: Jaeger, B., Abeling, N.G., Salomons, G.S., Struys, E.A., Simas-Mendes, M., Geukers, V.G., Poll-The, B.T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789384/
https://www.ncbi.nlm.nih.gov/pubmed/27014579
http://dx.doi.org/10.1016/j.ymgmr.2016.01.004
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author Jaeger, B.
Abeling, N.G.
Salomons, G.S.
Struys, E.A.
Simas-Mendes, M.
Geukers, V.G.
Poll-The, B.T.
author_facet Jaeger, B.
Abeling, N.G.
Salomons, G.S.
Struys, E.A.
Simas-Mendes, M.
Geukers, V.G.
Poll-The, B.T.
author_sort Jaeger, B.
collection PubMed
description We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative. Mutation analysis of the PNPO gene revealed a novel, homozygous, presumed pathogenic mutation (c.481C > T; p.(Arg161Cys)). Measurements of B(6) vitamers in a CSF sample after pyridoxine administration revealed elevated pyridoxamine as the only metabolic marker for PNPO deficiency. With pyridoxine monotherapy the patient is seizure free and neurodevelopmental outcome at the age of 14 months is normal.
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spelling pubmed-47893842016-03-24 Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation() Jaeger, B. Abeling, N.G. Salomons, G.S. Struys, E.A. Simas-Mendes, M. Geukers, V.G. Poll-The, B.T. Mol Genet Metab Rep Short Communication We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative. Mutation analysis of the PNPO gene revealed a novel, homozygous, presumed pathogenic mutation (c.481C > T; p.(Arg161Cys)). Measurements of B(6) vitamers in a CSF sample after pyridoxine administration revealed elevated pyridoxamine as the only metabolic marker for PNPO deficiency. With pyridoxine monotherapy the patient is seizure free and neurodevelopmental outcome at the age of 14 months is normal. Elsevier 2016-02-10 /pmc/articles/PMC4789384/ /pubmed/27014579 http://dx.doi.org/10.1016/j.ymgmr.2016.01.004 Text en © 2016 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Jaeger, B.
Abeling, N.G.
Salomons, G.S.
Struys, E.A.
Simas-Mendes, M.
Geukers, V.G.
Poll-The, B.T.
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation()
title Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation()
title_full Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation()
title_fullStr Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation()
title_full_unstemmed Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation()
title_short Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation()
title_sort pyridoxine responsive epilepsy caused by a novel homozygous pnpo mutation()
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789384/
https://www.ncbi.nlm.nih.gov/pubmed/27014579
http://dx.doi.org/10.1016/j.ymgmr.2016.01.004
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