State-of-the-Art 2019 on Gene Therapy for Phenylketonuria.

ABSTRACT: Phenylketonuria (PKU) is considered to be a paradigm for a monogenic metabolic disorder but was never thought to be a primary application for human gene therapy due to established alternative treatment. However, somewhat unanticipated improvement in neuropsychiatric outcome upon long-term treatment of adults with PKU with enzyme substitution therapy might slowly change this assumption. In parallel, PKU was for a long time considered to be an excellent test system for experimental gene therapy of a Mendelian autosomal recessive defect of the liver due to an outstanding mouse model and the easy to analyze and well-defined therapeutic end point, that is, blood l-phenylalanine concentration. Lifelong treatment by targeting the mouse liver (or skeletal muscle) was achieved using different appro

SUBMITTER: Grisch-Chan HM 

PROVIDER: S-EPMC6763965 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature