Hyperphenylalaninemia/Phenylalanine Hydroxylase Deficiency via the PAH Gene

Patients with elevated phenylalanine on NBS, PAH Deficiency or even modest hyperphenylalaninemia are good candidates for this test. Individuals that exhibit clinical symptoms of PAH Deficiency, particularly if newborn screening was not performed for them, and family members of patients known to have PAH variants are also good candidates. We will also sequence the PAH gene to determine carrier status.