ComplicationsBy Mayo Clinic staff
Untreated PKU can lead to:
- Irreversible brain damage and marked mental retardation within the first few months of life
- Behavioral problems and seizures in older children
- Phenylketonuria. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=phenylketonuria. Accessed Oct. 6, 2011.
- Blau N, et al. Phenylketonuria. The Lancet. 2010;376:1417.
- Bodamer OA. Overview of phenylketonuria. http://www.uptodate.com/home/index.html. Accessed Oct. 6, 2011.
- PKU (Phenylketonuria). March of Dimes. http://www.marchofdimes.com/baby/birthdefects_pku.html. Accessed Oct. 6, 2011.
- Ten Hoedt AE, et al. Parenting a child with phenylketonuria or galactosemia: Implications for health-related quality of life. Journal of Inherited Metabolic Diseases. 2011;34:391.
- Van Spronsen FJ, et al. Large neutral amino acids in the treatment of PKU: From theory to practice. Journal of Inherited Metabolic Diseases. 2010;33:671.