Phenylketonuria (PKU): Causes, classifications, clinical symptoms, diagnosis and treatment

Abstract

The autosomal recessive condition phenylketonuria (PKU) is brought on by mutations in the gene that codes for phenylalanine hydroxylase (PAH). Phenylalanine (Phe) builds up in the blood as a result of PAH mutations. Untreated PKU can result in several dangers, including brain damage. Due to factors including enhanced genetic testing and newborn screening, the number of PKU patients is predicted to rise. Therefore, it is necessary to popularize the knowledge of PKU in the society. Additionally, minimizing the occurrence of PKU symptoms is greatly aided by early identification and treatment of PKU. In this context, this review highly summarizes all aspects of knowledge about KPU, focusing on the genetic cause, classification, clinic symptoms, diagnosis, and treatment. Newborn screening and related diagnostic technologies, including the Guthrie test, the McCaman and Robins fluorescence assay, and Tandem mass spectrometry, are introduced in this paper. The dietary measures, PKU Formula, and two effective medications, Kuvan and Palynzio, are involved as well. In addition, state-of-the-art genetic techniques for diagnosis and treatment are also included. With an earlier and more accurate diagnosis, governments around the world should strengthen awareness of PKU and lead to the development of effective diagnostics and therapeutics. Finally, the purpose of this paper is to let more people know about PKU, strive for early detection and treatment, and do everything possible to avoid the occurrence of phenylketonuria symptoms.