Rebecca Condruti

Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism (IEM) resulting in life-threatening accumulation of phenylalanine in the body. This condition arises from the loss of phenylalanine hydroxylase (PAH), an enzyme which catalyzes the hydroxylation of phenylalanine into tyrosine. My research utilizes phenylalanine ammonia-lyase (PAL), an enzyme from the cyanobacteria Anabaena variabilis that non-oxidatively deaminates phenylalanine into ammonia and trans-cinnamic acid, as an enzyme replacement therapy for PKU.