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

doi:https://doi.org/10.1016/j.ymgmr.2016.01.004

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 journal › Article › Academic › peer-review

28 Citations (Scopus)

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 language	English
Pages (from-to)	60-63
Number of pages	4
Journal	Molecular Genetics and Metabolism Reports
Volume	6
DOIs	https://doi.org/10.1016/j.ymgmr.2016.01.004
Publication status	Published - 1 Mar 2016

Keywords

Antiquitin
Epilepsy
Neonatal
PNPO
Pyridoxal-phosphate
Pyridoxine

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https://doi.org/10.1016/j.ymgmr.2016.01.004

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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. ",

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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.

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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.

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KW - Epilepsy

KW - Neonatal

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KW - Pyridoxal-phosphate

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Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

Abstract

Keywords

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