Nutritional management of phenylketonuria

Annales Nestle

Volumn 68, Issue 2, 2010, Pages 58-69

  MacLeod, Erin L ^a   Ney, Denise M ^a  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

Amino acid; Long chain polyunsaturated fatty acids; Phenylalanine; Phenylalanine hydroxylase; Phenylketonuria; Tetrahydrobiopterin

Indexed keywords

ARGININE; ESSENTIAL FATTY ACID; GLYCOPROTEIN; HISTIDINE; ISOLEUCINE; LEUCINE; LYSINE; METHIONINE; MINERAL; PHENYLALANINE; TETRAHYDROBIOPTERIN; THREONINE; TRYPTOPHAN; TYROSINE; VALINE; VITAMIN;

ADOLESCENCE; ADULTHOOD; AMINO ACID BLOOD LEVEL; CALORIC INTAKE; CARDIOVASCULAR DISEASE; CHILDHOOD; DIET SUPPLEMENTATION; DIET THERAPY; HUMAN; INFANCY; LIFE CYCLE; MATERNAL DISEASE; METABOLIC REGULATION; NONHUMAN; OSTEOPENIA; PALATABILITY; PATIENT COMPLIANCE; PHENYLKETONURIA; PRACTICE GUIDELINE; PRESCRIPTION; PROTEIN INTAKE; REVIEW; TREATMENT OUTCOME;

EID: 77954240750     PISSN: 05178606     EISSN: 16614011     Source Type: Journal    
DOI: 10.1159/000312813     Document Type: Review

References (70)

1. Donlon J, Levy H, Scriver C: Hyperphenylalaninemia: Phenylalanine hydroxylase deficiency; in Scriver C, Beaudet A, Sly W, Valle D (eds): Metabolic and Molecular Basis of Inherited Disease. New York, McGraw-Hill, chapter 77, 2007.
2. Bickel H, Gerrard J, Hickmans EM: Influence of phenylalanine intake on phenylketonuria. Lancet 1953; 265: 812-813.
3. Bickel H, Gerrard J, Hickmans EM: The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child. Acta Paediatr 1954; 43: 64-77.
4. NIH: Phenylketonuria (PKU): screening and management. NIH Consensus Statement 2000; 17: 1-33.
5. Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria. Arch Dis Child 1993; 68: 426-427.
6. Acosta PB, Matalon KM: Nutrition management of patients with inherited disorders of aromatic amino acid metabolism; in Acosta PB (ed): Nutrition Management of Patients with Inherited Metabolic Disorders. Boston, Jones and Bartlett Publishers, 2010, pp 119- 174.
7. Guttler F, Azen C, Guldberg P, et al: Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study. Pediatrics 1999; 104: 258-262.
8. Abadie V, Berthelot J, Feillet F, et al: Management of phenylketonuria and hyperphenylalaninemia: the French guidelines (in French). Arch Pediatr 2005; 12: 594-601.
9. Burgard P, Bremer HJ, Buhrdel P, et al: Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997. Eur J Pediatr 1999; 158: 46-54.
10. Acosta P, Yannicelli S: Protocol 1 - phenylketonuria (PKU); in The Ross Metabolic Formula System Nutrition Support Protocols, ed 4. Columbus, Ross Products Division/Abbot Laboratories, 2001.
11. Camfield CS, Joseph M, Hurley T, et al: Optimal management of phenylketonuria: a centralized expert team is more successful than a decentralized model of care. J Pediatr 2004; 145: 53-57.
12. Metges CC, El-Khoury AE, Selvaraj AB, et al: Kinetics of L-[1-(13)C]leucine when ingested with free amino acids, unlabeled or intrinsically labeled casein. Am J Physiol Endocrinol Metab 2000; 278:E1000-E1009.
13. Dangin M, Boirie Y, Garcia-Rodenas C, et al: The digestion rate of protein is an independent regulating factor of postprandial protein retention. Am J Physiol Endocrinol Metab 2001; 280:E340-E348.
14. Van Rijn M, Hoeksma M, Sauer P, Szczerbak B, Gross M, Reijngoud DJ, Van Spronsen F: Protein metabolism in adult patients with phenylketonuria. Nutrition 2007; 23: 445-453.
15. Kindt E, Halvorsen S: The need of essential amino acids in children. An evaluation based on the intake of phenylalanine, tyrosine, leucine, isoleucine, and valine in children with phenylketonuria, tyrosine amino transferase defect, and maple syrup urine disease. Am J Clin Nutr 1980; 33: 279-286.
16. IOM: Dietary Reference Intakes for Energy, Carbohydrates, Fiber, Fat, Protein and Amino Acids (Macronutrients). Washington, National Academy Press, 2002.
17. WHO: Protein and Amino Acid Requirements in Human Nutrition. Geneva, WHO, 2007.
18. Bross R, Ball RO, Clarke JT, Pencharz PB: Tyrosine requirements in children with classical PKU determined by indicator amino acid oxidation. Am J Physiol Endocrinol Metab 2000; 278:E195-E201.
19. Zello GA, Pencharz PB, Ball RO: Phenylalanine flux, oxidation, and conversion to tyrosine in humans studied with L-[1-13C]phenylalanine. Am J Physiol 1990; 259:E835-E843.
20. Courtney-Martin G, Bross R, Raffi M, et al: Phenylalanine requirement in children with classical PKU determined by indicator amino acid oxidation. Am J Physiol Endocrinol Metab 2002; 283:E1249-E1256.
21. MacLeod EL, Gleason ST, Van Calcar SC, Ney DM: Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes. Mol Genet Metab 2009; 98: 331-337.
22. Van Spronsen FJ, Ahring KK, Gizewska M: PKU - what is daily practice in various centres in Europe? Data from a questionnaire by the scientific advisory committee of the European Society of Phenylketonuria and Allied Disorders. J Inherit Metab Dis 2009; 32: 58-64.
23. Azen CG, Koch R, Friedman EG, et al: Intellectual development in 12-year-old children treated for phenylketonuria. Am J Dis Child 1991; 145: 35-39.
24. Waisbren SE, Noel K, Fahrbach K, et al: Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol Genet Metab 2007; 92: 63-70.
25. Weigel C, Kiener C, Meier N, et al: Carnitine status in early-treated children, adolescents and young adults with phenylketonuria on low phenylalanine diets. Ann Nutr Metab 2008; 53: 91-95.
26. Barretto JR, Silva LR, Leite ME, et al: Poor zinc and selenium status in phenylketonuric children and adolescents in Brazil. Nutr Res 2008; 28: 208-211.
27. Van Bakel MM, Printzen G, Wermuth B, Wiesmann UN: Antioxidant and thyroid hormone status in selenium-deficient phenylketonuric and hyperphenylalaninemic patients. Am J Clin Nutr 2000; 72: 976-981.
28. Schulz B, Bremer HJ: Nutrient intake and food consumption of adolescents and young adults with phenylketonuria. Acta Paediatr 1995; 84: 743-748.
29. Hvas AM, Nexo E, Nielsen JB: Vitamin B 12 and vitamin B 6 supplementation is needed among adults with phenylketonuria (PKU). J Inherit Metab Dis 2006; 29: 47-53.
30. Acosta PB, Yannicelli S, Singh RH, et al: Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors. Genet Med 2004; 6: 96-101.
31. Van Calcar SC, Macleod EL, Gleason ST, et al: Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids. Am J Clin Nutr 2009; 89: 1068-1077.
32. Schulpis KH, Papassotiriou I, Tsakiris S, et al: Increased plasma adiponectin concentrations in poorly controlled patients with phenylketonuria normalize with a strict diet: evidence for catecholamine-mediated adiponectin regulation and a complex effect of phenylketonuria diet on atherogenesis risk factors. Metabolism 2005; 54: 1350-1355.
33. Agostoni C, Scaglioni S, Bonvissuto M, et al: Biochemical effects of supplemented longchain polyunsaturated fatty acids in hyperphenylalaninemia. Prostaglandins Leukot Essent Fatty Acids 2001; 64: 111-115.
34. Moseley K, Koch R, Moser AB: Lipid status and long-chain polyunsaturated fatty acid concentrations in adults and adolescents with phenylketonuria on phenylalanine-restricted diet. J Inherit Metab Dis 2002; 25: 56-64.
35. Agostoni C, Massetto N, Biasucci G, et al: Effects of long-chain polyunsaturated fatty acid supplementation on fatty acid status and visual function in treated children with hyperphenylalaninemia. J Pediatr 2000; 137: 504-509.
36. Huemer M, Huemer C, Moslinger D, et al: Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature. J Inherit Metab Dis 2007; 30: 694-699.
37. Perez-Duenas B, Cambra FJ, Vilaseca MA, et al: New approach to osteopenia in phenylketonuric patients. Acta Paediatr 2002; 91: 899-904.
38. Zeman J, Bayer M, Stepan J: Bone mineral density in patients with phenylketonuria. Acta Paediatr 1999; 88: 1348-1351.
39. Yannicelli S, Medeiros DM: Elevated plasma phenylalanine concentrations may adversely affect bone status of phenylketonuric mice. J Inherit Metab Dis 2002; 25: 347-361.
40. Deglaire A, Fromentin C, Fouillet H, et al: Hydrolyzed dietary casein as compared with the intact protein reduces postprandial peripheral, but not whole-body, uptake of nitrogen in humans. Am J Clin Nutr 2009; 90: 1011-1022.
41. Schuett V: Low Protein Food List for PKU, ed 2, Seattle, National PKU News, 2002.
42. Owada M, Aoki K, Kitagawa T: Taste p and feeding behaviour in children with phenylketonuria on a semisynthetic diet. Eur J Pediatr 2000; 159: 846-850.
43. MacDonald A, Rylance G, Hall SK, et al: Factors affecting the variation in plasma phenylalanine in patients with phenylketonuria on diet. Arch Dis Child 1996; 74: 412-417.
44. MacDonald A, Lilburn M, Davies P, et al: Ready to drink protein substitute is easier is for people with phenylketonuria. J Inherit Metab Dis 2006; 29: 526-531.
45. Prince AP, McMurray MP, Buist NR: Treatment products and approaches for phenylketonuria: improved palatability and flexibility demonstrate safety, efficacy and acceptance in US clinical trials. J Inherit Metab Dis 1997; 20: 486-498.
46. Walter JH, White FJ, Hall SK, et al: How practical are recommendations for dietary control in phenylketonuria? Lancet 2002; 360: 55-57.
47. Singh RH, Kable JA, Guerrero NV, et al: Impact of a camp experience on phenylalanine levels, knowledge, attitudes, and health beliefs relevant to nutrition management of phenylketonuria in adolescent girls. J Am Diet Assoc 2000; 100: 797-803.
48. Schuett VE, Brown ES, Michals K: Reinstitution of diet therapy in PKU patients from twenty-two US clinics. Am J Public Health 1985; 75: 39-42.
49. Bik-Multanowski M, Didycz B, Mozrzymas R, et al: Quality of life in noncompliant adults with phenylketonuria after resumption of the diet. J Inherit Metab Dis 2008, Epub ahead of print.
50. Gassio R, Campistol J, Vilaseca MA, et al: Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet? Acta Paediatr 2003; 92: 1474-1478.
51. Waisbren SE, Hanley W, Levy HL, et al: Outcome at age 4 years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative Study. JAMA 2000; 283: 756-762.
52. Rohr F, Munier A, Sullivan D, et al: The Resource Mothers Study of Maternal Phenylketonuria: preliminary findings. J Inherit Metab Dis 2004; 27: 145-155.
53. Fiege B, Blau N: Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. J Pediatr 2007; 150: 627-630.
54. Trefz FK, Burton BK, Longo N, et al: Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr 2009; 154: 700-707.
55. Burlina A, Blau N: Effect of BH(4) supplementation on phenylalanine tolerance. J Inherit Metab Dis 2009; 32: 40-45.
56. Hennermann JB, Buhrer C, Blau N, et al: Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria. Mol Genet Metab 2005; 86(suppl 1):S86-S90.
57. Blau N, Belanger-Quintana A, Demirkol M, et al: Optimizing the use of sapropterin (BH 4 ) in the management of phenylketonuria. Mol Genet Metab 2009; 96: 158-163.
58. Singh R, Jurecki E, Rohr F: Recommendations for personalized dietary adjustments based on patient response to tetrahydrobiopterin (BH 4 ) in phenylketonuria. Top Clin Nutr 2008; 23: 149-157.
59. Broer S: Amino acid transport across mammalian intestinal and renal epithelia. Physiol Rev 2008; 88: 249-286.
60. Weglage J, Wiedermann D, Denecke Jet al: Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria. Ann Neurol 2001; 50: 463-467.
61. 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: 1169-1178.
62. Schindeler S, Ghosh-Jerath S, Thompson S, et al: The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study. Mol Genet Metab 2007; 91: 48-54.
63. Matalon R, Michals-Matalon K, Bhatia G, et al: Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine. J Inherit Metab Dis 2007; 30: 153-158.
64. Ney DM, Hull AK, Van Calcar SC, et al: Dietary glycomacropeptide supports growth and reduces the concentrations of phenylalanine in plasma and brain in a murine model of phenylketonuria. J Nutr 2008; 138: 316-322.
65. Etzel MR: Manufacture and use of dairy protein fractions. J Nutr 2004; 134: 996S-1002S.
66. Veldhorst MA, Nieuwenhuizen AG, Hochstenbach-Waelen A, et al: Effects of complete whey-protein breakfasts versus whey without GMP-breakfasts on energy intake and satiety. Appetite 2009; 52: 388-395.
67. MacLeod EL, Clayton MK, Van Calcar SC, et al: Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria. Mol Genet Metab 2010, E-pub ahead of print. DOI: 10.1016/j.ymgme.2010.04.003.
68. Ney DM, Gleason ST, Van Calcar SC, et al: Nutritional management of PKU with glycomacropeptide from cheese whey. J Inherit Metab Dis 2009; 32: 32-39.
69. Sanjurjo P, Aldamiz L, Georgi G, et al: Dietary threonine reduces plasma phenylalanine levels in patients with hyperphenylalaninemia. J Pediatr Gastroenterol Nutr 2003; 36: 23-26.
70. Van Spronsen FJ, Burgard P: The truth of treating patients with phenylketonuria after childhood: the need for a new guideline. J Inherit Metab Dis 2008; 31: 673-679.