Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency.

The clinical characteristics, including age of onset, treatment response, and prognosis, were variable and difficult to classify into different types clearly. Patients with PNPO deficiency who used PN as their main treatment and being able to control seizures seemed to be associated with better outcomes. Patients with the same genotype tended to show the correlation of phenotype-genotype.