Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, Australia.
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S25-33. doi: 10.1007/s10545-009-9012-y. Epub 2010 Jan 5.
We describe two neonates presenting with perinatal hypophosphatasia and severe epileptic encephalopathy resulting in death. Both had increased levels of urinary vanillactate, indicating functional deficiency of aromatic amino acid decarboxylase, a pyridoxal-5-phosphate (PLP)-dependent enzyme required for dopamine and serotonin biosynthesis. Clinical findings and results of subsequent metabolic investigations were consistent with secondary pyridoxine-deficient encephalopathy. These patients highlight the importance of tissue non-specific alkaline phosphatase in the neuronal PLP-dependent metabolism of neurotransmitters. In addition, the disturbance of PLP metabolism appears to underlie the predominant neurological presentation in our patients. We recommend the measurement of serum alkaline phosphatase (ALP) during the assessment of perinatal seizures.
我们描述了两名新生儿，他们都患有围产期低磷酸酶血症和严重的癫痫性脑病，最终导致死亡。这两名患儿的尿香草扁桃酸水平均升高，表明芳香族氨基酸脱羧酶的功能缺陷，该酶是一种依赖于吡哆醛-5-磷酸（PLP）的酶，是多巴胺和 5-羟色胺生物合成所必需的。临床发现和随后的代谢研究结果与继发的吡哆醇缺乏性脑病一致。这些患者强调了组织非特异性碱性磷酸酶在神经元中依赖 PLP 的神经递质代谢中的重要性。此外，PLP 代谢的紊乱似乎是我们患者中主要神经表现的基础。我们建议在评估围产期癫痫发作时测量血清碱性磷酸酶（ALP）。
