Jaeger B, Abeling N G, Salomons G S, Struys E A, Simas-Mendes M, Geukers V G, Poll-The B T
Department of Pediatric Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Laboratory of Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands.
Mol Genet Metab Rep. 2016 Feb 10;6:60-3. doi: 10.1016/j.ymgmr.2016.01.004. eCollection 2016 Mar.
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.
我们报告了一名接受抗癫痫治疗但难治的新生儿癫痫患者，其对吡哆醇有反应。生化分析显示抗泛素缺乏的标志物正常，并且对ALDH7A1（抗泛素）基因的突变分析为阴性。PNPO基因的突变分析显示了一种新的纯合假定致病突变（c.481C>T；p.(Arg161Cys)）。给予吡哆醇后对脑脊液样本中的B6维生素进行测量，结果显示吡哆胺升高是PNPO缺乏的唯一代谢标志物。采用吡哆醇单一疗法，该患者无癫痫发作，14个月时的神经发育结果正常。
