Phenylalanine Hydroxylase Deficiency Hospitalizations A Novel Approach to Nutritional Management

Abstract

Phenylalanine hydroxylase (PAH) deficiency is a metabolic disorder that requires lifelong diet adherence for optimal neurodevelopmental and psychological outcomes. Maintaining phenylalanine (Phe) levels within the desired range (120-360 µmol/L) can be increasingly difficult as children grow older, gain more autonomy, and are affected by social influences. After exhausting outpatient intervention measures with 5 patients with severe PAH deficiency, hospitalization was pursued. Phe levels rapidly decreased in all cases. Despite the inability for 3 of the 5 patients to maintain optimal dietary adherence after hospitalization, the information gained regarding the patients’ protein tolerance was invaluable. Our clinic has found this approach to be a useful tool in the ongoing management of patients with PAH deficiency and will continue to consider hospitalization for our patients who are failing outpatient management.