Research Progress on Phenylketonuria

Abstract

Phenylketonuria (PKU), also known as hyperphenylalaninemia, is a common single-gene genetic disease. It is a congenital metabolic disorder caused by the lack of functional phenylalanine hydroxylase (PAH), leading to the accumulation of phenylalanine (Phe) in the blood and organs of patients. Patients will have severe developmental retardation, neurological deficits and behavioral abnormalities. Early screening of phenylketonuria can enable more children to receive early diagnosis and treatment earlier, and minimize the damage of phenylalanine to the nervous system. This article reviews its genetic mode, pathogenesis, current prevention and treatment measures.