Recent Advances in the Mechanism of Pyridoxine-responsive Disorders

摘要: Pyridoxine metabolism is summarised and speculation on possible defects leading to disease made. Inherited deficiencies of PLP enzymes, which are known respond in vivo pharmacologic doses pyridoxine listed. The mechanism responsiveness homocystinuria due cystathionine β-synthase deficiency discussed. There a correlation most (but not all) cases between the presence residual CS activity, often stimulated by pyridoxal phosphate much more than control enzyme, cultured fibroblasts vivo. Exceptional patients have been found discussed light detailed studies their cell lines. Clearly defined abnormalities binding mutant enzyme demonstrated evidence reduced intracellular stability modulation presented. Preliminary findings suggest that tissue level achieved following treatment could be one other factor determining responsiveness.