PNPO deficiency is inherited as autosomal recessive, which means that the patient inherits two mutated copies of the gene, one from the mother and one from the father. Mutations in the PNPO gene cause epilepsy and seizures in the first year of life, that doesn’t respond to the usual anticonvulsant drugs and pyridoxine. Therefore, genetic testing is necessary to diagnose PNPO deficiency.
PNPO