Changing dietary practices in phenylketonuria

Turkish Journal of Pediatrics

Volumn 51, Issue 5, 2009, Pages 409-415

  MacDonald, Anita ^a   Gökmen Özel, Hülya ^b   Daly, Anne ^a  

^a BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^b HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Dietary practices; Phenylketonuria

Indexed keywords

ALBUMIN; ARACHIDONIC ACID; ARGININE; CALCIUM; DOCOSAHEXAENOIC ACID; GLYCOPROTEIN; HEMOGLOBIN; HISTIDINE; ISOLEUCINE; LEUCINE; METHIONINE; PHENYLALANINE; SAPROPTERIN; SELENIUM; THREONINE; TRYPTOPHAN; TYROSINE; VALINE;

ALBUMIN BLOOD LEVEL; AMINO ACID BLOOD LEVEL; CALCIUM BLOOD LEVEL; DIET THERAPY; EGG; FISH; FRUIT; HEMATOCRIT; HEMOGLOBIN BLOOD LEVEL; HUMAN; MEAT; METABOLIC REGULATION; MILK; NONHUMAN; PALATABILITY; PHENYLKETONURIA; PROTEIN INTAKE; PROTEIN RESTRICTION; REVIEW; VEGETABLE; VITAMIN BLOOD LEVEL;

BIOPTERIN; COMBINED MODALITY THERAPY; DIET, PROTEIN-RESTRICTED; HUMANS; NUTRITIONAL STATUS; PHENYLALANINE; PHENYLKETONURIAS;

EID: 76149124212     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (35)

1. MacDonald A. Diet and compliance in phenylketonuria. Eur J Pediatr 2000; 159 (Suppl): S136-S141.
2. MacDonald A, Davies P, Daly A, et al. Does maternal knowledge and parent education affect blood phenylalanine control in PKU? J Hum Nutr Diet 2008; 21: 351-358.
3. Macdonald A. Phenylketonuria. In: Shaw V, Lawson M (eds). Clinical Paediatric Dietetics (3rd ed). Oxford: Blackwell Publishing; 2007: 309-332.
4. MacDonald A, Rylance G, Hall SK, Asplin D, Booth IW. Factors affecting the variation in plasma phenylalanine in patients with phenylketonuria on diet. Arch Dis Child 1996; 74: 412-417.
5. Gokmen Ozel H, Kucukkasap T, Koksal G, et al. Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria? J Inherit Metab Dis 2008 Jun 27. [Epub ahead of print]
6. MacDonald A, Daly A, Davies P, et al. Protein substitutes for PKU: What's new? J Inherit Metab Dis 2004; 27: 363-371.
7. Prince AP, McMurry 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.
8. MacDonald A, Rylance G, Asplin D, Harris G, Booth IW. Abnormal feeding behaviours in phenylketonuria. J Hum Nut Diet 1997; 10: 163-170.
9. Prince AP, McMurry MP, Buist AR. 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.
10. Schulz B, Bremer HJ. Nutrient intake and food consumption of adolescents and young adults with phenylketonuria. Acta Paediatr 1995; 84: 743-748.
11. 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.
12. MacDonald A, Chakrapani A, Hendriksz C, et al. Protein substitute dosage in PKU: How much do young patients need? Arch Dis Child 2006; 91: 588-593.
13. Kindt E, Motzfeldt K, Halvorsen S, Lie SO. Is phenylalanine requirement in infants and children related to protein intake? Br J Nutr 1984; 51: 435-442.
14. Acosta PB, Yannicelli S. Protein intake affects phenylalanine requirements and growth of infants with phenylketonuria. Acta Paediatr 1994; 83 (Suppl): 66-67.
15. Hoeksma M, Van Rijn M, Verkerk PH, et al. The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria. J Inherit Metab Dis 2005; 28: 845-854.
16. Huemer M, Huemer C, Möslinger D, Huter D, Stöckler-Ipsiroglu S. 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.
17. MacDonald A, Rylance G, Davies P, Asplin D, Hall SK, Booth IW. Administration of protein substitute and quality of control in phenylketonuria: a randomized study. J Inherit Metab Dis 2003; 26: 319-326.
18. Pietz J, Kreis R, Schmidt H, Meyding-Lamadé UK, Rupp A, Boesch C. Phenylketonuria: findings at MR imaging and localized in vivo H-1 MR spectroscopy of the brain in patients with early treatment. Radiology 1996; 201: 413-420.
19. Lou HC, Toft PB, Andresen J, et al. Unchanged MRI of myelin in adolescents with PKU supplied with non-phe essential amino acids after dietary relaxation. Acta Paediatr 1994; 83: 1312-1314.
20. Andersen AE, Avins L. Lowering brain phenylalanine levels by giving other large neutral amino acids. A new experimental therapeutic approach to phenylketonuria. Arch Neurol 1976; 33: 684-686.
21. 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.
22. Matalon R, Michals-Matalon K, Bhatia G, et al. Large neutral amino acids in the treatment of phenylketonuria (PKU). J Inherit Metab Dis 2006; 29: 732-738.
23. Rocha RC, Martel F. Large neutral amino acid supplementation in phenylketonuric patients. J Inherit Metab Dis 2009; DOI 10.1007/s10545-009-1132- x.
24. Ney DM, Hull AK, van Calcar SC, Liu X, Etzel MR. 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.
25. Lim K, van Calcar SC, Nelson KL, Gleason ST, Ney DM. Acceptable low-phenylalanine foods and beverages can be made with glycomacropeptide from cheese whey for individuals with PKU. Mol Genet Metab 2007; 92: 176-178.
26. 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.
27. 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.
28. Galli C, Agostoni C, Mosconi C, Riva E, Salari PC, Giovannini M. Reduced plasma C-20 and C-22 polyunsaturated fatty acids in children with phenylketonuria during dietary intervention. J Pediatr 1991; 119: 562-567.
29. Rose HJ, White F, MacDonald A, Rutherford PJ, Favre E. Fat intakes of children with PKU on low phenylalanine diets. J Hum Nutr Dietet 2005; 18: 395-400.
30. Trefz FK, Burton BK, Longo N, et al; Sapropterin Study Group. 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.
31. Burlina A, Blau N. Effect of BH(4) supplementation on phenylalanine tolerance. J Inherit Metab Dis 2009; 32: 40-45.
32. Bilginsoy C, Waitzman N, Leonard CO, Ernst SL. Living with phenylketonuria: perspectives of patients and their families. J Inherit Metab Dis 2005; 28: 639-649.
33. Medical Research Council Working Party on Phenylketonuria. Recommendations on the dietary management of phenylketonuria. Arch Dis Child 1993; 68: 426-427.
34. Waitzman N, Bilginsoy C, Leonard CO, Ernst SL, Prince A. The effect of phenylalanine test frequency on management of phenylketonuria. Working Paper No: 2004-3. Department of Economics, University of Utah, 2004.
35. Ahring K, Bélanger-Quintana A, Dokoupil K, et al. Dietary management practices in phenylketonuria across European centres. Clin Nutr 2009; 28: 231-236.