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Phenylketonuria - References
Early diagnosis is key to treating PKU, a rare genetic disorder that results in an amino acid imbalance in the body. According to research or other evidence, the following self-care steps may be helpful.
- Fight back with fish oil
Take a daily supplement containing 500 mg for every 8.8 pounds of body weight to prevent deficiencies caused by the PKU diet
- Seek support from supplements
Prevent vitamin and mineral deficiencies caused by the PKU diet by taking supplements that provide the daily value of L-tyrosine, vitamin K, vitamin B12, and selenium
- Discover branched-chain amino acids
Under a healthcare provider’s supervision, improve mental functioning by adding amino acid supplements to each meal and at bedtime; take 150 mg per 2.2 pounds (1 kg) of body weight each of valine and isoleucine, and 200 mg per 2.2 pounds (1 kg) of body weight of leucine
- Monitor amino acids in your diet
Work with your healthcare provider and a nutritionist to maintain a phenylalanine-restricted diet that is nutritionally adequate
- Pass up aspartame
Help prevent increased phenylalanine intake by steering clear of soft drinks, candy, and other foods and drinks sweetened with aspartame (Nutrasweet)
Also indexed as:
- phenylketonuria,
- phenylketonuria (PKU),
- PKU
About this treatment
1. Diamond A. Evidence for the importance of dopamine for prefrontal cortex functions early in life. Philos Trans R Soc Lond B Biol Sci 1996;351:1483–93 [review].
2. Cabalska MB, Nowaczewska I, Sendecka E, Zorska K. Longitudinal study on early diagnosis and treatment of phenylketonuria in Poland. Eur J Pediatr 1996;155 Suppl 1:S53–5.
3. Eisensmith RC, Woo SL. Gene therapy for phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S16–9 [review].
4. Lin CM, Tan Y, Lee YM, et al. Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer. J Inherit Metab Dis 1997;20:742–54.
5. Sarkissian CN, Shao Z, Blain F, et al. A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc Natl Acad Sci 1999;96:2339–44.
6. Pietz J, Kreis R, Rupp A, et al. Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J Clin Invest 1999;103:1169–78.
7. Mackey SA, Berlin CM Jr. Effect of dietary aspartame on plasma concentrations of phenylalanine and tyrosine in normal and homozygous phenylketonuric patients. Clin Pediatr 1992;31:394–9.
8. Diamond A. Evidence for the importance of dopamine for prefrontal cortex functions early in life. Philos Trans R Soc Lond B Biol Sci 1996;351:1483–93 [review].
9. Cockburn F, Clark BJ. Recommendations for protein and amino acid intake in phenylketonuric patients. Eur J Pediatr 1996;155 Suppl 1:S125–9.
10. Koch R, Moseley K, Ning J, et al. Long-term beneficial effects of the phenylalanine-restricted diet in late-diagnosed individuals with phenylketonuria. Mol Genet Metab 1999;67:148–55.
11. Yannicelli S, Ryan A. Improvements in behavior and physical manifestations in previously untreated adults with phenylketonuria using a phenylalanine-restricted diet: a national survey. J Inherit Metab Dis 1995;18:131–4.
12. Williams K. Benefits of normalizing plasma phenylalanine: impact on behavior and health. A case report. J Inherit Metab Dis 1998;21:785–90.
13. Arnold G, Kramer BM, Kirby RS, et al. Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria. Acta Paediatr 1998;87:565–70.
14. Baumeister AA, Baumeister AA. Dietary treatment of destructive behavior associated with hyperphenylalaninemia. Clin Neuropharmacol 1998;21:18–27 [review].
15. Griffiths P, Ward N, Harvie A, Cockburn F. Neuropsychological outcome of experimental manipulation of phenylalanine intake in treated phenylketonuria. J Inherit Metab Dis 1998;21:29–38.
16. Griffiths P, Smith C, Harvie A. Transitory hyperphenylalaninaemia in children with continuously treated phenylketonuria. Am J Ment Retard 1997;102:27–36.
17. Cerone R, Schiaffino MC, Di Stefano S, Veneselli E. Phenylketonuria: diet for life or not? Acta Paediatrica 1999;88:664–6.
18. Diamond A, Prevor MB, Callender G, Druin DP. Prefrontal cortex cognitive deficits in children treated early and continuously for PKU. Monogr Soc Res Child Dev 1997;62:1–208.
19. Griffiths P, Ward N, Harvie A, Cockburn F. Neuropsychological outcome of experimental manipulation of phenylalanine intake in treated phenylketonuria. J Inherit Metab Dis 1998;21:29–38.
20. Ullrich K. Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997. Eur J Pediatr 1999;158:46–54.
21. Fisch RO, Matalon R, Weisberg S, Michals K. Phenylketonuria: current dietary treatment practices in the United States and Canada. J Am Coll Nutr 1997;16:147–51.
22. Start K. Treating phenylketonuria by a phenylalanine-free diet. Prof Care Mother Child 1998;8:109–10 [review].
23. Davidson PW. Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria. Acta Paediatr 1998;87:565–70.
24. Schulpis KH, Nyalala JO, Papakonstantinou ED, et al. Biotin recycling impairment in phenylketonuric children with seborrheic dermatitis. Int J Dermatol 1998;37:918–21.
25. Berry HK, Brunner RL, Hunt MM, et al. Valine, isoleucine, and leucine. A new treatment for phenylketonuria. Am J Dis Child 1990;144:539–43.
26. Giovannini M, Agostoni C, Biasucci G, et al. Fatty acid metabolism in phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S132–5.
27. Agostoni C, Riva E, Biasucci G, et al. The effects of n-3 and n-6 polyunsaturated fatty acids on plasma lipids and fatty acids of treated phenylketonuric children. Prostaglandins Leukot Essent Fatty Acids 1995;53:401–4.
28. Beblo S, Reinhardt H, Demmelmair H, et al. Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria. J Pediatr 2007;150:479–84.
29. Agostoni C, Marangoni F, Riva E, et al. Plasma arachidonic acid and serum thromboxane B2 concentrations in phenylketonuric children negatively correlate with dietary compliance. Prostaglandins Leukot Essent Fatty Acids 1997;56:219–22.
30. Giovannini M, Agostoni C, Biasucci G, et al. Fatty acid metabolism in phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S132–5.
31. Poge AP, Baumann K, Muller E, et al. Long-chain polyunsaturated fatty acids in plasma and erythrocyte membrane lipids of children with phenylketonuria after controlled linoleic acid intake. J Inherit Metab Dis 1998;21:373–81.
32. Jochum F, Terwolbeck K, Meinhold H, et al. Effects of a low selenium state in patients with phenylketonuria. Acta Paediatr 1997;86:775–7.
33. Kauf E, Seidel J, Winnefeld K, et al. Selenium in phenylketonuria patients. Effects of sodium selenite administration. Med Klin 1997;92 Suppl 3:31–4 [in German].
34. Sierra C, Vilaseca MA, Moyano D, et al. Antioxidant status in hyperphenylalaninemia. Clin Chim Acta 1998;276:1–9.
35. Gropper SS, Naglak MC, Nardella M, et al. Nutrient intakes of adolescents with phenylketonuria and infants and children with maple syrup urine disease on semisynthetic diets. J Am Coll Nutr 1993;12:108–14.
36. Hanley WB, Feigenbaum AS, Clarke JT, et al. Vitamin B12 deficiency in adolescents and young adults with phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S145–7.
37. Schulpis KH, Platokouki H, Papakonstantinou ED, et al. Haemostatic variables in phenylketonuric children under dietary treatment. J Inherit Metab Dis 1996;19:603–9.
38. Sierra C, Vilaseca MA, Moyano D, et al. Antioxidant status in hyperphenylalaninemia. Clin Chim Acta 1998;276:1–9.
39. Kauf E, Seidel J, Winnefeld K, et al. Selenium in phenylketonuria patients. Effects of sodium selenite administration. Med Klin 1997;92 Suppl 3:31–4 [in German].
40. Lombeck I, Jochum F, Terwolbeck K. Selenium status in infants and children with phenylketonuria and in maternal phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S140–4.
41. Agostoni C, Marangoni F, Riva E, et al. Plasma arachidonic acid and serum thromboxane B2 concentrations in phenylketonuric children negatively correlate with dietary compliance. Prostaglandins Leukot Essent Fatty Acids 1997;56:219–22.
42. Giovannini M, Agostoni C, Biasucci G, et al. Fatty acid metabolism in phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S132–5.
43. Poge AP, Baumann K, Muller E, et al. Long-chain polyunsaturated fatty acids in plasma and erythrocyte membrane lipids of children with phenylketonuria after controlled linoleic acid intake. J Inherit Metab Dis 1998;21:373–81.
44. Jochum F, Terwolbeck K, Meinhold H, et al. Effects of a low selenium state in patients with phenylketonuria. Acta Paediatr 1997;86:775–7.
45. Kauf E, Seidel J, Winnefeld K, et al. Selenium in phenylketonuria patients. Effects of sodium selenite administration. Med Klin 1997;92 Suppl 3:31–4 [in German].
46. Sierra C, Vilaseca MA, Moyano D, et al. Antioxidant status in hyperphenylalaninemia. Clin Chim Acta 1998;276:1–9.
47. Gropper SS, Naglak MC, Nardella M, et al. Nutrient intakes of adolescents with phenylketonuria and infants and children with maple syrup urine disease on semisynthetic diets. J Am Coll Nutr 1993;12:108–14.
48. Hanley WB, Feigenbaum AS, Clarke JT, et al. Vitamin B12 deficiency in adolescents and young adults with phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S145–7.
49. Schulpis KH, Platokouki H, Papakonstantinou ED, et al. Haemostatic variables in phenylketonuric children under dietary treatment. J Inherit Metab Dis 1996;19:603–9.
50. Hanley WB, Feigenbaum AS, Clarke JT, et al. Vitamin B12 deficiency in adolescents and young adults with phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S145–7.
51. Agostoni C, Marangoni F, Riva E, et al. Plasma arachidonic acid and serum thromboxane B2 concentrations in phenylketonuric children negatively correlate with dietary compliance. Prostaglandins Leukot Essent Fatty Acids 1997;56:219–22.
52. Giovannini M, Agostoni C, Biasucci G, et al. Fatty acid metabolism in phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S132–5.
53. Poge AP, Baumann K, Muller E, et al. Long-chain polyunsaturated fatty acids in plasma and erythrocyte membrane lipids of children with phenylketonuria after controlled linoleic acid intake. J Inherit Metab Dis 1998;21:373–81.
54. Jochum F, Terwolbeck K, Meinhold H, et al. Effects of a low selenium state in patients with phenylketonuria. Acta Paediatr 1997;86:775–7.
55. Kauf E, Seidel J, Winnefeld K, et al. Selenium in phenylketonuria patients. Effects of sodium selenite administration. Med Klin 1997;92 Suppl 3:31–4 [in German].
56. Sierra C, Vilaseca MA, Moyano D, et al. Antioxidant status in hyperphenylalaninemia. Clin Chim Acta 1998;276:1–9.
57. Gropper SS, Naglak MC, Nardella M, et al. Nutrient intakes of adolescents with phenylketonuria and infants and children with maple syrup urine disease on semisynthetic diets. J Am Coll Nutr 1993;12:108–14.
58. Hanley WB, Feigenbaum AS, Clarke JT, et al. Vitamin B12 deficiency in adolescents and young adults with phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S145–7.
59. Schulpis KH, Platokouki H, Papakonstantinou ED, et al. Haemostatic variables in phenylketonuric children under dietary treatment. J Inherit Metab Dis 1996;19:603–9.
60. Schulpis KH, Platokouki H, Papakonstantinou ED, et al. Haemostatic variables in phenylketonuric children under dietary treatment. J Inherit Metab Dis 1996;19:603–9.
Last Review: 05-11-2011
Copyright © 2011 Aisle7. All rights reserved. www.Aisle7.net
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The information presented in Aisle7 is for informational purposes only. It is based on scientific studies (human, animal, or in vitro), clinical experience, or traditional usage as cited in each article. The results reported may not necessarily occur in all individuals. Self-treatment is not recommended for life-threatening conditions that require medical treatment under a doctor's care. For many of the conditions discussed, treatment with prescription or over the counter medication is also available. Consult your doctor, practitioner, and/or pharmacist for any health problem and before using any supplements or before making any changes in prescribed medications. Information expires June 2011.
© 1995-2011 Healthwise, Incorporated. Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated. This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.
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