In the United States, babies are tested for PKU soon after birth as a part of the newborn screening (NBS) program.1
Although PKU is rare, affecting only about 1 in 10,000 to 15,000 babies, recognizing this serious disease right away and treating it early, and continuously throughout life, can help prevent serious health and mental problems.1,2
Newborns and babies with PKU don’t initially have any signs or symptoms of the disease, but without early and continuous treatment, these usually develop slowly over time.1
Treatment guidelines recommend beginning treatment as early as possible, starting dietary treatment within the first week of life.1
Reference: 1. Vockley J, Andersson HC, Antshel KM, et al; for the American College of Medical Genetics and Genomics Therapeutic Committee. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med. 2014;16(2):188-200. 2. National Human Genome Research Institute. Learning about phenylketonuria. http://genome.gov/pdf. Published August 2012. Accessed May 28, 2014 3. Waisbren SE, Noel K, Fahrbach K, et al. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol Genet Metab. 2007;92(1-2):63-70.