Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

B. Jaeger, N. G. Abeling, G. S. Salomons, E. A. Struys, M. Simas-Mendes, V. G. Geukers, B. T. Poll-The

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

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 B6 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.

Original languageEnglish
Pages (from-to)60-63
Number of pages4
JournalMolecular Genetics and Metabolism Reports
Volume6
DOIs
Publication statusPublished - 1 Mar 2016

Cite this

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title = "Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation",
abstract = "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 B6 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.",
keywords = "Antiquitin, Epilepsy, Neonatal, PNPO, Pyridoxal-phosphate, Pyridoxine",
author = "B. Jaeger and Abeling, {N. G.} and Salomons, {G. S.} and Struys, {E. A.} and M. Simas-Mendes and Geukers, {V. G.} and Poll-The, {B. T.}",
year = "2016",
month = "3",
day = "1",
doi = "10.1016/j.ymgmr.2016.01.004",
language = "English",
volume = "6",
pages = "60--63",
journal = "Molecular Genetics and Metabolism Reports",
issn = "2214-4269",
publisher = "Elsevier BV",

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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.

In: Molecular Genetics and Metabolism Reports, Vol. 6, 01.03.2016, p. 60-63.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

AU - Jaeger, B.

AU - Abeling, N. G.

AU - Salomons, G. S.

AU - Struys, E. A.

AU - Simas-Mendes, M.

AU - Geukers, V. G.

AU - Poll-The, B. T.

PY - 2016/3/1

Y1 - 2016/3/1

N2 - 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 B6 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.

AB - 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 B6 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.

KW - Antiquitin

KW - Epilepsy

KW - Neonatal

KW - PNPO

KW - Pyridoxal-phosphate

KW - Pyridoxine

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U2 - 10.1016/j.ymgmr.2016.01.004

DO - 10.1016/j.ymgmr.2016.01.004

M3 - Article

VL - 6

SP - 60

EP - 63

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

SN - 2214-4269

ER -