New insights into tetrahydrobiopterin pharmacodynamics from , a mouse model for compound heterozygote tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

• Published in: Biochemical pharmacology Vol. 80; no. 10
• Main Authors: Lagler, Florian B., Gersting, Søren W., Zsifkovits, Clemens, Steinbacher, Alice, Eichinger, Anna, Danecka, Marta K., Staudigl, Michael, Fingerhut, Ralph, Glossmann, Hartmut, Muntau, Ania C.
• Format: Journal Article
• Language: English
• Published: Elsevier 24.09.2010
• Subjects: tetrahydrobiopterin; mouse model; pharmacodynamics; phenylketonuria; heterozygote; compound

Phenylketonuria (PKU), an autosomal recessive disease with phenylalanine hydroxylase (PAH) deficiency, was recently shown to be a protein misfolding disease with loss-of-function. It can be treated by oral application of the natural PAH cofactor tetrahydrobiopterin (BH) that acts as a pharmacologica...