Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin …

S Kure, K Sato, K Fujii, Y Aoki, Y Suzuki, S Kato… - Molecular genetics and …, 2004 - Elsevier
We previously proposed a novel disease entity, tetrahydrobiopterin (BH4)-responsive
phenylalanine hydroxylase (PAH) deficiency, in which administration of BH4 reduced
elevated levels of serum phenylalanine [J. Pediatr. 135 (1999) 375–378]. Subsequent
reports indicate that the prevalence of BH4-responsive PAH deficiency is much higher than
initially anticipated. Although growing attention surrounds treatment with BH4, little is known
about the mechanism of BH4 responsiveness. An early report indicates that BH4 …