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This comprehensive review provides a unique analysis of Phenylketonuria (PKU) in the context of medical genetics. It discusses genetic mutations of PKU and related disorders; and prenatal and neonatal testing for PKU. It also discusses treatment options. The article provides an analysis of the existing literature describing the clinical outcomes of untreated PKU in different age groups. PKU is known for its variability of clinical symptoms – this article discusses some of the reasons behind such variability in the context of the latest research studies. The article also addresses the evolutionary aspects of PKU – providing a comparison data from different countries. This review article is an excellent resource for the patients, health care providers, expecting parents, genetics professionals and general public. It includes the analysis of more than 15 original research studies and provides a comprehensive perspective on the genetic and clinical characteristics of PKU.