The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies
| Autor: | Karin Beese, Hans Hartmann, Céline Bürer, Anita Rauch, Sorina Mihaela Papuc, Lucia Abela, Nanda M. Verhoeven-Duif, Lisa M. Crowther, Monique Albersen, Eduard A. Struys, Déborah Mathis, Levinus A. Bok, Martin Hersberger, Barbara Plecko |
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| Přispěvatelé: | University of Zurich, Plecko, Barbara, Laboratory Medicine, Amsterdam Neuroscience - Cellular & Molecular Mechanisms |
| Rok vydání: | 2016 |
| Předmět: |
Adult
Male 0301 basic medicine Vitamin 2716 Genetics (clinical) medicine.medical_specialty Pyridoxal Adolescent 10039 Institute of Medical Genetics 610 Medicine & health 030105 genetics & heredity Biology Plasma Young Adult 03 medical and health sciences chemistry.chemical_compound Epilepsy 0302 clinical medicine 1311 Genetics Internal medicine Journal Article Genetics medicine Humans Child Genetics (clinical) Early onset Epileptic encephalopathy Infant Newborn Infant Pyridoxine medicine.disease Vitamin B 6 Endocrinology chemistry 10036 Medical Clinic Child Preschool Pyridoxal Phosphate Plasma chemistry Female Vitamin b6 Pyridoxamine Spasms Infantile Biomarkers Metabolism Inborn Errors Pyridoxic Acid 030217 neurology & neurosurgery |
| Zdroj: | Mathis, D, Abela, L, Albersen, M, Burer, C, Crowther, L, Beese, K, Hartmann, H, Bok, L A, Struys, E, Papuc, S M, Rauch, A, Hersberger, M, Verhoeven-Duif, N M & Plecko, B 2016, ' The value of plasma vitamin B-6 profiles in early onset epileptic encephalopathies ', Journal of Inherited Metabolic Disease, vol. 39, no. 5, pp. 733-741 . https://doi.org/10.1007/s10545-016-9955-8 Journal of Inherited Metabolic Disease, 39(5), 733-741. Springer Netherlands Journal of Inherited Metabolic Disease, 39(5), 733–741. Springer Netherlands |
| ISSN: | 1573-2665 0141-8955 |
| DOI: | 10.1007/s10545-016-9955-8 |
| Popis: | BACKGROUND: Recent decades have unravelled the molecular background of a number of inborn errors of metabolism (IEM) causing vitamin B6-dependent epilepsy. As these defects interfere with vitamin B6 metabolism by different mechanisms, the plasma vitamin B6 profile can give important clues for further molecular work-up. This has so far been investigated in only a small number of patients. METHODS: We evaluated the vitamin B6 vitamers pyridoxal 5'-phosphate (PLP), pyridoxal (PL), pyridoxamine (PM), pyridoxine (PN) and the catabolite pyridoxic acid (PA) in the so far largest patient cohort: reference (n = 50); pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency (n = 6); antiquitin (ATQ) deficiency (n = 21); tissue non-specific alkaline phosphatase (TNSALP) deficiency (n = 2) and epileptic encephalopathy (EE) of unknown etiology tested negative for ATQ and PNPO deficiency (n = 64). RESULTS: High plasma PM concentration was found in all patients with PNPO deficiency irrespective of vitamin B6 supplementation. Their PM concentration and the PM/PA ratio was significantly higher (p |
| Databáze: | OpenAIRE |
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