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Abstract

The main focus of this dissertation work was to advance gene therapy research for phenylketonuria (PKU). PKU is an inborn error of metabolism characterized by phenylalanine hydroxylase (PAH) deficiency that results in severe neurological damage if left untreated. PAH functions in the liver to metabolize the essential amino acid phenylalanine (Phe), which is taken up in excess through dietary means. The standard of care for PKU is a highly restricted diet that is void of Phe that one must adhere to for life, however the diet is challenging for all and unrealistic for most. The PKU community has voiced their desire for the development of a gene therapy that would, in essence, be a one-time curative treatment for their disease, allowing for a completely liberated diet without the devastating neurological consequences.

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