Výsledky vyhledávání - "PNPO DEFICIENCY"

Akademický článek

Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review

Autor: Mario Mastrangelo, Valentina Gasparri, Katerina Bernardi, Silvia Foglietta, Georgia Ramantani, Francesco Pisani

Publikováno v: Children, Vol 10, Iss 3, p 553 (2023)

Background: Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and glycosylph

Externí odkaz: https://doaj.org/article/f5537317b768411db319336e78c86e33

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A vitamin a day keeps the doctor away

Autor: N.N. Stolwijk, M.M. Brands, L.S. Smit, V. van der Wel, C.E.M. Hollak, C.D. van Karnebeek

Publikováno v: European Journal of Paediatric Neurology, 39, 25-29. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 39, 25-29. W.B. Saunders
European journal of paediatric neurology : EJPN, 39, 25-29. W.B. Saunders Ltd
Stolwijk, N N, Brands, M M, Smit, L S, van der Wel, V, Hollak, C E M & van Karnebeek, C D 2022, ' A vitamin a day keeps the doctor away : The need for high quality pyridoxal-5′-phosphate ', European Journal of Paediatric Neurology, vol. 39, pp. 25-29 . https://doi.org/10.1016/j.ejpn.2022.04.011

BackgroundA rare subset of vitamin B6 responsive seizure disorders does not respond to pyridoxine, and requires the active form of vitamin B6, pyridoxal-5′-phosphate (PLP), to maintain seizure control. Patients with PLP-responsive seizures are depe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df3b6cb347eb0d8a64e5f9528734f15b
http://www.scopus.com/inward/record.url?scp=85131400037&partnerID=8YFLogxK

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Molecular characterization of pyridoxine 5′-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy

Autor: Isabel Nogués, Victoria I. Bunik, Roberto Contestabile, Angela Tramonti, Anna Barile, Martino L. di Salvo

Publikováno v: Scientific Reports, Vol 10, Iss 1, Pp 1-15 (2020)
Scientific Reports
Scientific reports (Nature Publishing Group) 10 (2020). doi:10.1038/s41598-020-70598-7
info:cnr-pdr/source/autori:Barile, Anna; Nogués, Isabel; di Salvo, Martino L.; Bunik, Victoria; Contestabile, Roberto; Tramonti, Angela/titolo:Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy/doi:10.1038%2Fs41598-020-70598-7/rivista:Scientific reports (Nature Publishing Group)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:10

Defects of vitamin B6 metabolism are responsible for severe neurological disorders, such as pyridoxamine 5′-phosphate oxidase deficiency (PNPOD; OMIM: 610090), an autosomal recessive inborn error of metabolism that usually manifests with neonatal-o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e60a3a8c507697eefddd9faf875efd53
http://link.springer.com/article/10.1038/s41598-020-70598-7

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Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5′-Phosphate Oxidase-Dependent Epilepsy

Autor: Claudio Graziani, Victoria I. Bunik, Roberto Contestabile, Anna Barile, Martino L. di Salvo, Peter E. Clayton, Philippa B. Mills, Angela Tramonti

Publikováno v: International Journal of Molecular Sciences
Volume 22
Issue 21
International journal of molecular sciences
22 (2021). doi:10.3390/ijms222112013
info:cnr-pdr/source/autori:Barile, Anna; Mills, Philippa; Di Salvo, Martino L.; Graziani, Claudio; Bunik, Victoria; Clayton, Peter; Contestabile, Roberto; Tramonti, Angela/titolo:Characterization of novel pathogenic variants causing pyridox(am)ine 5'-phosphate oxidase-dependent epilepsy/doi:10.3390%2Fijms222112013/rivista:International journal of molecular sciences (Print)/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:22
International Journal of Molecular Sciences, Vol 22, Iss 12013, p 12013 (2021)

Several variants of the enzyme pyridox(am)ine 5′-phosphate oxidase (PNPO), responsible for a rare form of vitamin B6-dependent neonatal epileptic encephalopathy known as PNPO deficiency (PNPOD), have been reported. However, only a few of them have

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90430761f2ec83dba1adec7ec36fc808

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Complexities of pyridoxine response in PNPO deficiency

Autor: Kumar Ankur, Ankit Gupta, Suvasini Sharma, Rajni Farmania, Sanjeev Chetry

Publikováno v: Epilepsy & Behavior Reports, Vol 16, Iss, Pp 100443-(2021)
Epilepsy & Behavior Reports

Highlights • Treatment of PNPO deficiency related neonatal status epilepticus is challenging. • Pyridoxine responsiveness is seen in huge number of cases of PNPO deficiency. • Various phenotypic variants in terms of response to pyridoxine are k

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f675dfb4886f793f500e675d288a7318
http://www.sciencedirect.com/science/article/pii/S2589986421000174

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