P5 A case report: dihydropteridine reductase deficiency and the efficacy of replacement with a nutritional supplement from of 5-hydroxytryptophan

Abstract

IntroductionDihydropteridine reductase (DHPR) deficiency is an autosomal recessive genetic disorder where the synthesis of tetrahydrobiopterin (BH4) is affected. BH4 is an essential co-factor for the hydroxylation of the aromatic amino...