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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.

SUBMITTER: Jaeger B

PROVIDER: S-EPMC4789384 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature

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Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.

Jaeger B B Abeling N G NG Salomons G S GS Struys E A EA Simas-Mendes M M Geukers V G VG Poll-The B T BT

Molecular genetics and metabolism reports 20160210

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 metaboli ...[more]

PMID: 27014579

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