start-ver=1.4 cd-journal=joma no-vol=113 cd-vols= no-issue= article-no= start-page=33 end-page=41 dt-received= dt-revised= dt-accepted= dt-pub-year=2020 dt-pub=202012 dt-online= en-article= kn-article= en-subject= kn-subject= en-title= kn-title=Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6?dependent Epilepsy Than Pyridoxal 5-Phosphate en-subtitle= kn-subtitle= en-abstract= kn-abstract=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, -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. en-copyright= kn-copyright= en-aut-name=AkiyamaTomoyuki en-aut-sei=Akiyama en-aut-mei=Tomoyuki kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=1 ORCID= en-aut-name=HyodoYuki en-aut-sei=Hyodo en-aut-mei=Yuki kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=2 ORCID= en-aut-name=HasegawaKosei en-aut-sei=Hasegawa en-aut-mei=Kosei kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=3 ORCID= en-aut-name=OboshiTaikan en-aut-sei=Oboshi en-aut-mei=Taikan kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=4 ORCID= en-aut-name=ImaiKatsumi en-aut-sei=Imai en-aut-mei=Katsumi kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=5 ORCID= en-aut-name=IshiharaNaoko en-aut-sei=Ishihara en-aut-mei=Naoko kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=6 ORCID= en-aut-name=DowaYuri en-aut-sei=Dowa en-aut-mei=Yuri kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=7 ORCID= en-aut-name=KoikeTakayoshi en-aut-sei=Koike en-aut-mei=Takayoshi kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=8 ORCID= en-aut-name=YamamotoToshiyuki en-aut-sei=Yamamoto en-aut-mei=Toshiyuki kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=9 ORCID= en-aut-name=ShibasakiJun en-aut-sei=Shibasaki en-aut-mei=Jun kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=10 ORCID= en-aut-name=ShimboHiroko en-aut-sei=Shimbo en-aut-mei=Hiroko kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=11 ORCID= en-aut-name=FukuyamaTetsuhiro en-aut-sei=Fukuyama en-aut-mei=Tetsuhiro kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=12 ORCID= en-aut-name=TakanoKyoko en-aut-sei=Takano en-aut-mei=Kyoko kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=13 ORCID= en-aut-name=ShirakuHiroshi en-aut-sei=Shiraku en-aut-mei=Hiroshi kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=14 ORCID= en-aut-name=TakeshitaSaoko en-aut-sei=Takeshita en-aut-mei=Saoko kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=15 ORCID= en-aut-name=OkanishiTohru en-aut-sei=Okanishi en-aut-mei=Tohru kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=16 ORCID= en-aut-name=BabaShimpei en-aut-sei=Baba en-aut-mei=Shimpei kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=17 ORCID= en-aut-name=KubotaMasaya en-aut-sei=Kubota en-aut-mei=Masaya kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=18 ORCID= en-aut-name=HamanoShin-ichiro en-aut-sei=Hamano en-aut-mei=Shin-ichiro kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=19 ORCID= en-aut-name=KobayashiKatsuhiro en-aut-sei=Kobayashi en-aut-mei=Katsuhiro kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=20 ORCID= affil-num=1 en-affil=Department of Child Neurology, Okayama University Hospital kn-affil= affil-num=2 en-affil=Department of Child Neurology, Okayama University Hospital kn-affil= affil-num=3 en-affil=Department of Pediatrics, Okayama University Hospital kn-affil= affil-num=4 en-affil=Department of Pediatric Neurology, Osaka Womenfs and Childrenfs Hospital kn-affil= affil-num=5 en-affil=Department of Pediatrics, NHO Shizuoka Institute of Epilepsy and Neurological Disorders kn-affil= affil-num=6 en-affil=Department of Pediatrics, Fujita Health University School of Medicine kn-affil= affil-num=7 en-affil=Department of Neurology, Gunma Childrenfs Medical Center kn-affil= affil-num=8 en-affil=Department of Pediatrics, NHO Shizuoka Institute of Epilepsy and Neurological Disorders kn-affil= affil-num=9 en-affil=Institute of Clinical Genomics, Tokyo Womenfs Medical University kn-affil= affil-num=10 en-affil=Department of Neonatology, Kanagawa Childrenfs Medical Center kn-affil= affil-num=11 en-affil=Clinical Institute, Kanagawa Childrenfs Medical Center kn-affil= affil-num=12 en-affil=Department of Pediatrics, Shinshu University kn-affil= affil-num=13 en-affil=Center for Medical Genetics, Shinshu University Hospital kn-affil= affil-num=14 en-affil=Department of Pediatrics, JA Toride Medical Center kn-affil= affil-num=15 en-affil=Department of Pediatrics, Yokohama City University Medical Center kn-affil= affil-num=16 en-affil=Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital kn-affil= affil-num=17 en-affil=Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital kn-affil= affil-num=18 en-affil=Division of Neurology, National Center for Child Health and Development kn-affil= affil-num=19 en-affil=Division of Neurology, Saitama Childrenfs Medical Center kn-affil= affil-num=20 en-affil=Department of Child Neurology, Okayama University Hospital kn-affil= en-keyword=ALDH7A1 kn-keyword=ALDH7A1 en-keyword=PLPBP kn-keyword=PLPBP en-keyword=PLPHP kn-keyword=PLPHP en-keyword=PROSC kn-keyword=PROSC en-keyword=Pyridoxal 5-phosphate homeostasis protein deficiency kn-keyword=Pyridoxal 5-phosphate homeostasis protein deficiency en-keyword=Pyridoxine-dependent epilepsy kn-keyword=Pyridoxine-dependent epilepsy END