Albersen Monique, Bosma Marjolein, Luykx Jurjen J, Jans Judith J M, Bakker Steven C, Strengman Eric, Borgdorff Paul J, Keijzers Peter J M, van Dongen Eric P A, Bruins Peter, de Sain-van der Velden Monique G M, Visser Gepke, Knoers Nine V V A M, Ophoff Roel A, Verhoeven-Duif Nanda M
Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands (MA, MB, JJMJ, ES, MGMdS-vdV, NVVAMK, and NMV-D); the Neurogenetics Unit (JJL) and the Department of Psychiatry (SCB and RAO), Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; the Department of Psychiatry, ZNA Hospitals, Antwerp, Belgium (JJL); the Department of Anesthesiology, Intensive Care and Pain Management, Diakonessenhuis Hospital, Utrecht, Netherlands (PJB); the Department of Anesthesiology, Central Military Hospital, Utrecht, Netherlands (PJMK); the Department of Anesthesiology, Intensive Care and Pain Management, St Antonius Hospital, Nieuwegein, Netherlands (EPAvD and PB); the Department of Pediatric Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Netherlands (GV); and the Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA (RAO).
From the Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands (MA, MB, JJMJ, ES, MGMdS-vdV, NVVAMK, and NMV-D); the Neurogenetics Unit (JJL) and the Department of Psychiatry (SCB and RAO), Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; the Department of Psychiatry, ZNA Hospitals, Antwerp, Belgium (JJL); the Department of Anesthesiology, Intensive Care and Pain Management, Diakonessenhuis Hospital, Utrecht, Netherlands (PJB); the Department of Anesthesiology, Central Military Hospital, Utrecht, Netherlands (PJMK); the Department of Anesthesiology, Intensive Care and Pain Management, St Antonius Hospital, Nieuwegein, Netherlands (EPAvD and PB); the Department of Pediatric Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Netherlands (GV); and the Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA (RAO).
Am J Clin Nutr. 2014 Aug;100(2):587-92. doi: 10.3945/ajcn.113.082008. Epub 2014 May 7.
Vitamin B-6 comprises a group of 6 interrelated vitamers and is essential for numerous physiologic processes, including brain functioning. Genetic disorders disrupting vitamin B-6 metabolism have severe clinical consequences.
To adequately diagnose known and novel disorders in vitamin B-6 metabolism, a reference set is required containing information on all vitamin B-6 vitamers in plasma and cerebrospinal fluid (CSF).
Concentrations of vitamin B-6 vitamers in the plasma and CSF of 533 adult subjects were measured by ultra high-performance liquid chromatography-tandem mass spectrometry.
The relative vitamin B-6 vitamer composition of plasma [pyridoxal phosphate (PLP) > pyridoxic acid (PA) > pyridoxal] differed from that of CSF (pyridoxal > PLP > PA > pyridoxamine). Sex influenced vitamin B-6 vitamer concentrations in plasma and CSF and should therefore be taken into account when interpreting vitamin B-6 vitamer concentrations. The strict ratios and strong correlations between vitamin B-6 vitamers point to a tight regulation of vitamin B-6 vitamer concentrations in blood and CSF. Given the unique design of this study, with simultaneously withdrawn blood and CSF from a large number of subjects, reliable CSF:plasma ratios and correlations of vitamin B-6 vitamers could be established.
We provide an extensive reference set of vitamin B-6 vitamer concentrations in plasma and CSF. In addition to providing insight on the regulation of individual vitamers and their intercompartmental distribution, we anticipate that these data will prove to be a valuable reference set for the diagnosis and treatment of conditions associated with altered vitamin B-6 metabolism.
维生素B-6由6种相互关联的维生素异构体组成，对包括大脑功能在内的众多生理过程至关重要。破坏维生素B-6代谢的遗传疾病具有严重的临床后果。
为了充分诊断维生素B-6代谢中的已知和新型疾病，需要一个参考数据集，其中包含血浆和脑脊液（CSF）中所有维生素B-6异构体的信息。
采用超高效液相色谱-串联质谱法测定了533名成年受试者血浆和脑脊液中维生素B-6异构体的浓度。
血浆中维生素B-6异构体的相对组成[磷酸吡哆醛（PLP）>吡哆酸（PA）>吡哆醛]与脑脊液（吡哆醛>PLP>PA>吡哆胺）不同。性别影响血浆和脑脊液中维生素B-6异构体的浓度，因此在解释维生素B-6异构体浓度时应予以考虑。维生素B-6异构体之间严格的比例和强相关性表明血液和脑脊液中维生素B-6异构体浓度受到严格调控。鉴于本研究的独特设计，同时从大量受试者中采集血液和脑脊液，因此可以建立可靠的脑脊液：血浆比例以及维生素B-6异构体的相关性。
我们提供了血浆和脑脊液中维生素B-6异构体浓度的广泛参考数据集。除了深入了解个体异构体的调控及其跨隔室分布外，我们预计这些数据将被证明是诊断和治疗与维生素B-6代谢改变相关疾病的有价值的参考数据集。
