Pyridoxine-dependent pathway

The pyridoxine-dependent pathway is a metabolic route where the function or synthesis of biomolecules depends on pyridoxine (vitamin B6) or its active forms, especially pyridoxal 5'-phosphate (PLP). It is primarily associated with lysine metabolism, neurotransmitter synthesis, and the etiology of pyridoxine-dependent epilepsy (PDE) due to mutations in the ALDH7A1 gene, which encodes antiquitin. Antiquitin deficiency leads to the accumulation of toxic intermediates that interfere with PLP function, impairing neurotransmitter synthesis. Treatment involves pyridoxine supplementation to restore PLP function.

Cofactor supplementation (pyridoxine/PLP)