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. 2021 Nov 10;93(46):15340–15348. doi: 10.1021/acs.analchem.1c02896

Scheme 1. Overview of the l-Lysine Metabolic Pathway Involved in Pyridoxine-Dependent Epilepsy.

Scheme 1

(a) Inactivity of the enzyme antiquitin coded by the ALDH7A1 gene leads to (b) accumulation of α-aminoadipic semialdehyde (α-AASA) and its cyclic counterpart piperideine-6-carboxylic acid (P6C). (c) P6C can react spontaneously with several β-ketoacids or β-diacids, resulting in the formation of a range of P6C-derived biomarkers (1–4), several of which are identified here. Orange arrows indicate metabolites found at elevated levels in PDE.