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Phenylketonuria (PKU)   Also available in: Spanish   This public health education information fact sheet provides general information about this genetic disorder including causes, diagnosis, treatment and symptom prevention.... Details > March of Dimes Birth Defects Foundation Phenylketonuria (PKU): Screening and Management This NIH consensus statement covers the incidence and prevalence of phenylketonuria (PKU), screening strategies, strategy effectiveness, and treatment regimens.... Details > National Institutes of Health, U.S. Department of Health and Human Services What is PKU?   Phenylketonuria (PKU) is a genetic inborn error of metabolism that is detectable during the first days of life with appropriate blood testing (newborn screening). The absence or deficiency of an enzym... Details > Children's PKU Network