Phenylalanine hydroxylase mRNA rescues the phenylketonuria phenotype in mice

ABSTRACT: Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency in functional phenylalanine hydroxylase (PAH), resulting in accumulation of phenylalanine (Phe) in patients’ blood and organs. Affected patients encounter severe developmental delay, neurological deficits, and behavioral abnormalities when not treated. Early diagnosis and treatment are extremely important; newborn screening programs have been implemented in most countries to ensure early identification of patients with PKU. Despite available treatment options, several challenges remain: life-long adherence to a strict diet, approval of some medications for adults only, and lack of response to these therapies in a subpopulation of patients. Therefore, there is an urgent need for treatment alternatives. An mRNA-bas

SUBMITTER: Cacicedo M 

PROVIDER: S-EPMC9585315 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature