Mercimek-Mahmutoglu Saadet, Corderio Dawn, Nagy Laura, Mutch Carly, Carter Melissa, Struys Eduard, Kyriakopoulou Lianna
Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada.
Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
Mol Genet Metab Rep. 2014 Apr 1;1:124-128. doi: 10.1016/j.ymgmr.2014.02.001. eCollection 2014.
Pyridoxine dependent epilepsy (PDE) is caused by mutations in the gene (PDE-) encoding α-aminoadipic-semialdehyde-dehydrogenase enzyme in the lysine catabolic pathway resulting in an accumulation of α-aminoadipic-acid-semialdehyde (α-AASA). We present the one-year treatment outcome of a patient on a lysine-restricted diet. Serial cerebral-spinal-fluid (CSF) α-AASA and CSF pipecolic-acid levels showed decreased levels but did not normalize. He had a normal neurodevelopmental outcome on a lysine-restricted diet. Despite normal CSF and plasma tryptophan levels and normal tryptophan intake, he developed mild CSF serotonin deficiency at one year of therapy. Stricter lysine restriction would be necessary to normalize CSF α-AASA levels, but might increase the risks associated with the diet. Patients are at risk of cerebral serotonin deficiency and should be monitored by CSF neurotransmitter measurements.
吡哆醇依赖性癫痫（PDE）是由赖氨酸分解代谢途径中编码α-氨基己二酸半醛脱氢酶的基因（PDE-）发生突变引起的，导致α-氨基己二酸半醛（α-AASA）蓄积。我们报告了一名采用赖氨酸限制饮食患者的一年治疗结果。连续检测脑脊液（CSF）中的α-AASA和脑脊液哌可酸水平显示其水平降低，但未恢复正常。他在赖氨酸限制饮食下神经发育结果正常。尽管脑脊液和血浆中色氨酸水平正常且色氨酸摄入量正常，但在治疗一年时他出现了轻度脑脊液5-羟色胺缺乏。要使脑脊液α-AASA水平恢复正常，需要更严格地限制赖氨酸，但这可能会增加与该饮食相关的风险。患者有发生脑5-羟色胺缺乏的风险，应通过脑脊液神经递质检测进行监测。
