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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Bibliographic Details
Published in:Molecular genetics and metabolism reports 2016-03, Vol.6 (C), p.60-63
Main Authors: Jaeger, B., Abeling, N.G., Salomons, G.S., Struys, E.A., Simas-Mendes, M., Geukers, V.G., Poll-The, B.T.
Format: Article
Language:English
Subjects:
Antiquitin
Epilepsy
Neonatal
PNPO
Pyridoxal-phosphate
Pyridoxine
Short Communication
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Summary: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 14months is normal.
ISSN:2214-4269
2214-4269
DOI:10.1016/j.ymgmr.2016.01.004