The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies

Mathis, Déborah; Abela, Lucia; Albersen, Monique; Bürer, Céline; Crowther, Lisa; Beese, Karin; Hartmann, Hans; Bok, Levinus A; Struys, Eduard; Papuc, Sorina M; Rauch, Anita; Hersberger, Martin; Verhoeven-Duif, Nanda M; Plecko, Barbara

doi:10.5167/uzh-130110

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Mathis, D., Abela, L., Albersen, M., Bürer, 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 B6 profiles in early onset epileptic encephalopathies. Journal of Inherited Metabolic Disease, 39, 733–741. https://doi.org/10.1007/s10545-016-9955-8

Abstract

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 pyr