Background

We aimed to demonstrate the biochemical characteristics of vitamin B6–dependent epilepsy, with a particular focus on pyridoxal 5′-phosphate and pyridoxal in the cerebrospinal fluid.

Methods

Using our laboratory database, we identified patients with vitamin B6–dependent epilepsy and extracted their data on the concentrations of pyridoxal 5′-phosphate, pyridoxal, pipecolic acid, α-aminoadipic semialdehyde, and monoamine neurotransmitters. We compared the biochemical characteristics of these patients with those of other epilepsy patients with low pyridoxal 5′-phosphate concentrations.

Results

We identified seven patients with pyridoxine-dependent epilepsy caused by an ALDH7A1 gene abnormality, two patients with pyridoxal 5′-phosphate homeostasis protein deficiency, and 28 patients with other epilepsies with low cerebrospinal fluid pyridoxal 5′-phosphate concentrations. Cerebrospinal fluid pyridoxal and pyridoxal 5′-phosphate concentrations were low in patients with vitamin B6–dependent epilepsy but cerebrospinal fluid pyridoxal concentrations were not reduced in most patients with other epilepsies with low cerebrospinal fluid pyridoxal 5′-phosphate concentrations. Increase in 3-O-methyldopa and 5-hydroxytryptophan was demonstrated in some patients with vitamin B6–dependent epilepsy, suggestive of pyridoxal 5′-phosphate deficiency in the brain.

Conclusions

Low cerebrospinal fluid pyridoxal concentrations may be a better indicator of pyridoxal 5′-phosphate deficiency in the brain in vitamin B6–dependent epilepsy than low cerebrospinal fluid pyridoxal 5′-phosphate concentrations. This finding is especially helpful in individuals with suspected pyridoxal 5′-phosphate homeostasis protein deficiency, which does not have known biomarkers.

中文翻译：

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与 5'-磷酸吡哆醛相比，脑脊液中的吡哆醛可能是维生素 B6 依赖性癫痫的更好指标

背景

我们旨在证明维生素 B6 依赖性癫痫的生化特征，特别关注脑脊液中的 5'-磷酸吡哆醛和吡哆醛。

方法

使用我们的实验室数据库，我们确定了维生素 B6 依赖性癫痫患者，并提取了他们关于 5'-磷酸吡哆醛、吡哆醛、哌可酸、α-氨基己二酸半醛和单胺类神经递质浓度的数据。我们将这些患者的生化特征与其他具有低吡哆醛 5'-磷酸浓度的癫痫患者的生化特征进行了比较。

结果

我们确定了 7 名由ALDH7A1基因异常引起的吡哆醇依赖性癫痫患者、2 名吡哆醛 5'-磷酸稳态蛋白缺乏症患者和 28 名脑脊液吡哆醛 5'-磷酸酯浓度低的其他癫痫患者。维生素 B6 依赖性癫痫患者的脑脊液吡哆醛和吡哆醛 5'-磷酸盐浓度较低，但大多数脑脊液吡哆醛 5'-磷酸盐浓度低的其他癫痫患者的脑脊液吡哆醛浓度并未降低。在一些维生素 B6 依赖性癫痫患者中证实了 3- O-甲基多巴和 5-羟色氨酸的增加，这表明大脑中缺乏 5'-磷酸吡哆醛。

结论

与低脑脊液吡哆醛 5'-磷酸浓度相比，低脑脊液吡哆醛浓度可能是维生素 B6 依赖性癫痫患者大脑中 5'-磷酸吡哆醛缺乏的更好指标。这一发现对疑似吡哆醛 5'-磷酸稳态蛋白缺乏症的个体特别有帮助，该蛋白缺乏已知的生物标志物。