Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

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• 作者：B. Jaeger^a ; ^{b.jaeger@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author} ; N.G. Abeling^b ; ^{n.g.abeling@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author} ; G.S. Salomons^c ; ^{g.salomons@vumc.nl" class="auth_mail" title="E-mail the corresponding author} ; E.A. Struys^c ; ^{e.struys@vumc.nl" class="auth_mail" title="E-mail the corresponding author} ; M. Simas-Mendes^c ; ^{m.mendes@vumc.nl" class="auth_mail" title="E-mail the corresponding author} ; V.G. Geukers^d ; ^{v.g.geukers@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author} ; B.T. Poll-The^a ; ^{b.t.pollthe@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author}
• 关键词：CSF ; cerebrospinal fluid ; PDE ; (classic) pyridoxine dependent epilepsy ; PLP ; pyridoxal-5&prime ; -phosphate ; PLP-DE ; pyridoxal-phosphate dependent epilepsy ; PNPO ; pyridox(am)ine-5&prime ; -phosphate oxidase ; α-AASA ; alpha-aminoadipic semialdehyde dehydrogenase
• 刊名：Molecular Genetics and Metabolism Reports
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：6
• 期：Complete
• 页码：60-63
• 全文大小：558 K

文摘

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.