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Health Condition

Phenylketonuria

About This Condition

Phenylketonuria (PKU) is a rare genetic disorder that results in excessive accumulation of the amino acid, phenylalanine, and reduced levels of the amino acid, L-tyrosine, in the blood.1

If untreated, high levels of phenylalanine can cause severe mental retardation, behavioral disturbances, and other brain and nerve problems. Fortunately, newborn screening programs now identify most cases of PKU in the United States and other countries. Early diagnosis and treatment is the key to reducing or preventing PKU-related conditions.2 Gene therapy is currently being researched as a possible cure.3,4 Research is also being conducted on methods to decrease levels of phenylalanine in the blood through the use of certain enzymes5 and amino acids.6

Symptoms

Infants with PKU may be lethargic, feed poorly, and have a “mousy” odor from their sweat and urine. Eczema, sensitivity to sunlight, and light skin are also characteristic of PKU. Symptoms of children with untreated PKU include significantly diminished mental capacity, hyperactivity, and seizures.

Other Therapies

Other treatment consists of strict adherence to a diet low in phenylalanine, in order to prevent a buildup of phenylalanine in the body.

References

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. 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.

8. Giovannini M, Agostoni C, Biasucci G, et al. Fatty acid metabolism in phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S132-5.

9. 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.

10. 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.

11. 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.

12. Giovannini M, Agostoni C, Biasucci G, et al. Fatty acid metabolism in phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S132-5.

13. 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.

14. Jochum F, Terwolbeck K, Meinhold H, et al. Effects of a low selenium state in patients with phenylketonuria. Acta Paediatr 1997;86:775-7.

15. 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].

16. Sierra C, Vilaseca MA, Moyano D, et al. Antioxidant status in hyperphenylalaninemia. Clin Chim Acta 1998;276:1-9.

17. 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.

18. 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.

19. Schulpis KH, Platokouki H, Papakonstantinou ED, et al. Haemostatic variables in phenylketonuric children under dietary treatment. J Inherit Metab Dis 1996;19:603-9.

20. 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.

21. 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.

22. Giovannini M, Agostoni C, Biasucci G, et al. Fatty acid metabolism in phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S132-5.

23. 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.

24. Jochum F, Terwolbeck K, Meinhold H, et al. Effects of a low selenium state in patients with phenylketonuria. Acta Paediatr 1997;86:775-7.

25. 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].

26. Sierra C, Vilaseca MA, Moyano D, et al. Antioxidant status in hyperphenylalaninemia. Clin Chim Acta 1998;276:1-9.

27. 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.

28. 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.

29. Schulpis KH, Platokouki H, Papakonstantinou ED, et al. Haemostatic variables in phenylketonuric children under dietary treatment. J Inherit Metab Dis 1996;19:603-9.

30. 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.

31. 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].

32. Cockburn F, Clark BJ. Recommendations for protein and amino acid intake in phenylketonuric patients. Eur J Pediatr 1996;155 Suppl 1:S125-9.

33. 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.

34. 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.

35. Williams K. Benefits of normalizing plasma phenylalanine: impact on behavior and health. A case report. J Inherit Metab Dis 1998;21:785-90.

36. 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.

37. Baumeister AA, Baumeister AA. Dietary treatment of destructive behavior associated with hyperphenylalaninemia. Clin Neuropharmacol 1998;21:18-27 [review].

38. 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.

39. Griffiths P, Smith C, Harvie A. Transitory hyperphenylalaninaemia in children with continuously treated phenylketonuria. Am J Ment Retard 1997;102:27-36.

40. Cerone R, Schiaffino MC, Di Stefano S, Veneselli E. Phenylketonuria: diet for life or not? Acta Paediatrica 1999;88:664-6.

41. 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.

42. Ullrich K. Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997. Eur J Pediatr 1999;158:46-54.

43. 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.

44. Start K. Treating phenylketonuria by a phenylalanine-free diet. Prof Care Mother Child 1998;8:109-10 [review].

45. Schulpis KH, Nyalala JO, Papakonstantinou ED, et al. Biotin recycling impairment in phenylketonuric children with seborrheic dermatitis. Int J Dermatol 1998;37:918-21.

46. Waisbren SE, Rokni H, Bailey I, et al. Social factors and the meaning of food in adherence to medical diets: results of a maternal phenylketonuria summer camp. J Inherit Metab Dis 1997;20:21-7.

47. Scheibenreiter S, Tiefenthaler M, Hinteregger V, et al. Austrian report on longitudinal outcome in phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S45-9.

48. Weglage J, Funders B, Ullrich K, et al. Psychosocial aspects in phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S101-4.

49. Brenton DP, Lilburn M. Maternal phenylketonuria. A study from the United Kingdom. Eur J Pediatr 1996;155 Suppl 1:S177-80.

50. Levy HL, Ghavami M. Maternal phenylketonuria: a metabolic teratogen. Teratology 1996;53:176-84 [review].

51. Cechak P, Hejcmanova L, Rupp A. Long-term follow-up of patients treated for phenylketonuria (PKU). Results from the Prague PKU Center. Eur J Pediatr 1996;155 Suppl 1:S59-63.

52. Cipcic-Schmidt S, Trefz FK, Funders B, et al. German Maternal Phenylketonuria Study. Eur J Pediatr 1996;155 Suppl 1:S173-6.

53. Rouse B, Azen C, Koch R, et al. Maternal Phenylketonuria Collaborative Study (MPKUCS) offspring: facial anomalies, malformations, and early neurological sequelae. Am J Med Genet 1997;69:89-95.

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The information presented by Healthnotes 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 December 2018.

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