Risk factors for inheriting phenylketonuria include:
- Having two parents with a defective PKU gene. Both parents must pass along a copy of the mutated PKU gene for their child to develop the condition.
- Being of certain ethnic decent. The gene defect varies by ethnic groups and is less common in African-Americans than in other ethnic groups.
Children of mothers with PKU who didn't follow the PKU diet during pregnancy are at risk of birth defects due to the high levels of phenylalanine in their mothers' blood.
Nov. 26, 2014
- 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.
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