Hyperphenylalaninemias (HPA) are Mendelian disorders resulting from deficiencies in the
conversion of phenylalanine to tyrosine. The vast majority are explained by a primary
deficiency of phenylalanine hydroxylase (PAH) activity. The majority of untreated patients
experience irreversible impairment of cognitive development. Although it is one of the best
known hereditary metabolic disorders, mechanisms underlying the pathophysiology of the
disease are still not fully understood; to this end, the availability of an orthologous animal …