Jagadeesh Sujatha, Suresh Beena, Murugan V, Suresh S, Salomans G S, Struys E A, Jacobs C
Department of Genetics, Mediscan, Chennai, India.
Paediatr Int Child Health. 2013 May;33(2):113-5. doi: 10.1179/2046905512Y.0000000028.
Pyridoxine-dependent epilepsy (PDE) is an inborn error of metabolism resulting from antiquitin deficiency. There is marked elevation of α-amino adipic semi-aldehyde (αAASA), piperidine-6-carboxylate (P6C) and pipecolic acid. The diagnosis can be confirmed by identifying the mutation in the ALDH7A1 gene in chromosome 5q3l. An 8-year-old Indian girl presented with severe developmental delay and seizures and was found to have pyridoxine-dependent epilepsy owing to an antiquitin mutation. Genetic evaluation of the parents allowed antenatal diagnosis to be made during the next pregnancy.
吡哆醇依赖性癫痫（PDE）是一种由于抗喹啉缺乏导致的先天性代谢紊乱。α-氨基己二酸半醛（αAASA）、哌啶-6-羧酸（P6C）和哌可酸显著升高。通过鉴定5q3l染色体上ALDH7A1基因的突变可确诊。一名8岁印度女孩出现严重发育迟缓并伴有癫痫发作，经检查发现因抗喹啉突变患有吡哆醇依赖性癫痫。对其父母进行基因评估后，得以在下次妊娠期间进行产前诊断。
