Untreated phenylketonuria can lead to:
Nov. 26, 2014
- Irreversible brain damage and marked intellectual disability within the first few months of life
- Neurological problems such as seizures and tremors
- Abnormally small head (microcephaly)
- Behavioral, emotional and social problems in older children and adults
- Significant health and developmental problems
- Phenylketonuria. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=phenylketonuria. Accessed Oct. 12, 2014.
- Greene CL, et al. National Institutes of Health (NIH) review of evidence in phenylalanine hydroxylase deficiency (phenylketonuria) and recommendations/guidelines for therapy from the American College of Medical Genetics (ACMG) and Genetics Metabolic Dietitians International (GMDI). Molecular Genetics and Metabolism. 2014;112:85.
- Camp KM, et al. Phenylketonuria Scientific Review Conference: State of the science and future research needs. Molecular Genetics and Metabolism. 2014;112:87.
- Ney DM, et al. Advances in the nutritional and pharmacological management of phenylketonuria. Current Opinion in Clinical Nutrition and Metabolic Care. 2014;17:61.
- Marcason W. Is there a standard meal plan for phenylketonuria (PKU)? Journal of the Academy of Nutrition and Dietetics. 2014;113:S1.
- Casey L. Caring for children with phenylketonuria. Canadian Family Physician. 2013;59:837.
- About phenylketonuria (PKU). National Human Genome Research Institute. http://www.genome.gov/25020037. Accessed Oct. 12, 2014.
- My PKU binder. National PKU Alliance. http://npkua.org/Education/MyPKUBinder.aspx. Accessed Oct. 21, 2014.
- Zeratsky KA (expert opinion). Mayo Clinic, Rochester, Minn. Nov. 5, 2014.
- Gavrilov DK (expert opinion). Mayo Clinic, Rochester, Minn. Nov. 10, 2014.