Optimising growth in phenylketonuria: Current state of the clinical evidence base

Clinical Nutrition

Volumn 31, Issue 1, 2012, Pages 16-21

  Dokoupil, Katharina ^a   Gokmen Ozel, Hulya ^b   Lammardo, Anna Maria ^c   Motzfeldt, Kristina ^d   Robert, Martine ^e   Rocha, Júlio César ^f   van Rijn, Margreet ^g   Ahring, Kirsten ^h   Bélanger Quintana, Amaya ⁱ   MacDonald, Anita ^j  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b HACETTEPE UNIVERSITY   (Turkey)

^c UNIVERSITY OF MILAN   (Italy)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

^e HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^f UP   (Portugal)

^g UNIVERSITY OF GRONINGEN   (Netherlands)

^h Kennedy Centre   (Denmark)

ⁱ HOSPITAL RAMÓN Y CAJAL   (Spain)

^j BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

more..

Author keywords

Development; Growth; Hyperphenylalaninaemia; Phenylketonuria

Indexed keywords

AGE; CHILD GROWTH; CHILD HEALTH CARE; CHILD NUTRITION; CLINICAL EFFECTIVENESS; DISEASE ASSOCIATION; EVIDENCE BASED MEDICINE; HUMAN; MENTAL DEFICIENCY; NUTRITIONAL REQUIREMENT; OBESITY; PATIENT ASSESSMENT; PHENYLKETONURIA; PHYSICAL DEVELOPMENT; PROTEIN INTAKE; REVIEW; RISK FACTOR; SYSTEMATIC REVIEW; THERAPY EFFECT;

BRAIN; CHILD; CHILD DEVELOPMENT; DIET, PROTEIN-RESTRICTED; EVIDENCE-BASED MEDICINE; GROWTH; HUMANS; NUTRITIONAL STATUS; PHENYLALANINE; PHENYLKETONURIAS;

EID: 84856228820     PISSN: 02615614     EISSN: 15321983     Source Type: Journal    
DOI: 10.1016/j.clnu.2011.09.001     Document Type: Review

References (54)

1. Joint NIH-DOE Ethical, Legal and Social Implications Working Group of the Human Genome Project. Task Force on Genetic Testing. Promoting Safe and Effective Genetic Testing in the United States. Appendix 5. The History of Newborn Phenylketonuria Screening in the United States. Available at: (accessed June 2011). http://www.genome.gov/10002397.
2. NIH Consensus development Conference Statement: phenylketonuria: screening and management. Oct 16-18, 2000. Pediatrics 2001, 108:972-982.
3. Waisbren S.E., Noel K., Fahrbach K., Cella C., Frame D., Dorenbaum A., et al. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol Genet Metab 2007, 92:63-70.
4. MacDonald A., Asplin D. Phenylketonuria: practical dietary management. JFam Health Care 2006, 16:83-85.
5. Holm V.A., Knox W.E. Physical growth in phenylketonuria: I. A retrospective study. Pediatrics 1979, 63:694-699.
6. Acosta P.B., Yannicelli S., Singh R., Mofidi S., Steiner R., DeVincentis E., et al. Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy. JAm Diet Assoc 2003, 103:1167-1173.
7. Acosta P.B., Yannicelli S. Protein intake affects phenylalanine requirements and growth of infants with phenylketonuria. Acta Paediatr Suppl 1994, 407:66-67.
8. Acosta P.B., Yannicelli S., Marriage B., Mantia C., Gaffield B., Porterfield M., et al. Nutrient intake and growth of infants with phenylketonuria undergoing therapy. JPediatr Gastroenterol Nutr 1998, 27:287-291.
9. Arnold G.L., Vladutiu C.J., Kirby R.S., Blakely E.M., Deluca J.M. Protein insufficiency and linear growth restriction in phenylketonuria. JPediatr 2002, 141:243-246.
10. Chang P.N., Weisberg S., Fisch R.O. Growth development and its relationship to intellectual functioning of children with phenylketonuria. JDev Behav Pediatr 1984, 5:127-131.
11. Dhondt J.L., Largillière C., Moreno L., Farriaux J.P. Physical growth in patients with phenylketonuria. JInherit Metab Dis 1995, 18:135-137.
12. Dobbelaere D., Michaud L., Debrabander A., Vanderbecken S., Gottrand F., Turck D., et al. Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria. JInherit Metab Dis 2003, 26:1-11.
13. Verkerk P.H., van Spronsen F.J., Smit G.P., Sengers R.C. Impaired prenatal and postnatal growth in Dutch patients with phenylketonuria. The National PKU Steering Committee. Arch Dis Child 1994, 71:114-118.
14. van Spronsen F.J., Verkerk P.H., van Houten M., Smit G.P., van der Meer S.B., Bakker H.D., et al. Does impaired growth of PKU patients correlate with the strictness of dietary treatment?. Acta Paediatr 1997, 86:816-818.
15. Hoeksma M., Van Rijn M., Verkerk P.H., Bosch A.M., Mulder M.F., de Klerk J.B., et al. The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria. JInherit Metab Dis 2005, 28:845-854.
16. Holm V.A., Kronmal R.A., Williamson M., Roche A.F. Physical growth in phenylketonuria: II. Growth of treated children in the PKU collaborative study from birth to 4 years of age. Pediatrics 1979, 63:700-707.
17. 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. JInherit Metab Dis 2007, 30:694-699.
18. McBurnie M.A., Kronmal R.A., Schuett V.E., Koch R., Azeng C.G. Physical growth of children treated for phenylketonuria. Ann Hum Biol 1991, 18:357-368.
19. Schaefer F., Burgard P., Batzler U., Rupp A., Schmidt H., Gilli G., et al. Growth and skeletal maturation in children with phenylketonuria. Acta Paediatr 1994, 83:534-541.
20. Allen J.R., Mccauley J.C., Waters D.L., O'connor J., Roberts D.C., Gaskin K.J. Resting energy expenditure in children with phenylketonuria. Am J Clin Nutr 1995, 62:797-801.
21. Rolland-Cachera M.F., Deheeger M., Bellisle F., Sempe M., Guilloud-Bataille M., Patois E. Adiposity rebound in children: a simple indicator for predicting obesity. Am J Clin Nutr 1984, 39:129-135.
22. He Q., Karlberg J. Probability of adult overweight and risk change during the BMI rebound period. Obes Res 2002, 10:135-140.
23. Scaglioni S., Verduci E., Fiori L., Am Lammardo, Rossi S., Radaelli G., et al. Body mass index rebound and overweight at 8 years of age in hyperphenylalaninaemic children. Acta Paediatr 2004, 93:1596-1600.
24. White J.E., Kronmal R.A., Acosta P.B. Excess weight among children with phenylketonuria. JAm Coll Nutr 1982, 1:293-303.
25. Quirk M.E., Schmotzer B.J., Singh R.H. Predictive equations underestimate resting energy expenditure in female adolescents with phenylketonuria. JAm Diet Assoc 2010, 110:922-925.
26. van Spronsen F.J., Burgard P. The truth of treating patients with phenylketonuria after childhood: the need for a new guideline. JInherit Metab Dis 2008, 31:673-679.
27. Ellerton C., Maritz C., Chan H., Lachman R., Murphy E. Raised body mass index in adult patients with PKU 2010, Dietary management of Inherited Metabolic Disorders, London, Abstract p. 26.
28. McNulty J.M., Boyle F., Crushell E., Treacy E., Monavari A. The prevalence of overweight and obesity in an Irish PKU population 2010, Dietary management of Inherited Metabolic Disorders, London, Abstract p. 29.
29. Boyle F., McNulty J.M., Treacy E., Monavari A. Acomparison of the incidence of overweight in Irish PKU children in 1999 and 2009 2010, Dietary management of Inherited Metabolic Disorders, London, Abstract p. 28.
30. Rocha J.C., Almeida M.F., Soares G., Bastos J., Guimarães J.T., Borges N., et al. Body composition and markers of metabolic syndrome in adults with PKU. JInherit Metab Dis 2010, 33:S168.
31. Ahring K., Belanger-Quintana A., Dokoupil K., Gokmen Ozel H., Lammardo A.M., MacDonald A., et al. Dietary management practices in phenylketonuria across European centres. Clin Nutr 2009, 28:231-236.
32. MacDonald A., Daly A., Davies P., Asplin D., Hall S.K., Rylance G., et al. Protein substitutes for PKU: what's new?. JInherit Metab Dis 2004, 27:363-371.
33. National Society for Phenylktonuria (United Kingdom) Ltd.. Dietary information for the treatment of phenylketonuria 2011/2012. Available at , (accessed June 2011). http://www.nspku.org/dietary_information.htm.
34. Hoeks M.P., den Heijer M., Janssen M.C. Adult issues in phenylketonuria. Neth J Med 2009, 67:2-7.
35. Lammardo A.M., Bélanger-Quintana A., Dokoupil K., Gokmen-Ozel H., MacDonald A., Motzfeldt K., et al. Cost of diet therapy in Phenylketonuria in 10 European centres. JInherit Metab Dis 2010, 33(Suppl. 1):167. [Abstract].
36. World Health organisation. The WHO child growth standards. Available at: (accessed June 2011). http://www.who.int/childgrowth/en/.
37. van Rijn M., Hoeksma M., Sauer P., Szczerbak B., Gross M., Reijngoud D.J., et al. Protein metabolism in adult patients with phenylketonuria. Nutrition 2007, 23:445-453.
38. Gropper S.S., Gropper D.M., Acosta P.B. Plasma amino acid response to ingestion of L-amino acids and whole protein. JPediatr Gastroenterol Nutr 1993, 16:143-150.
39. Boirie Y., Dangin M., Gachon P., Vasson M.P., Maubois J.L., Beaufrere B. Slow and fast dietary proteins differently modulate postprandial protein accretion. Proc Natl Acad Sci USA 1997, 94:14930-14935.
40. Metges C.C., El-Khoury A.E., Selvaraj A.B., Tsay R.H., Atkinson A., Regan M.M., 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.
41. Dangin M., Boirie Y., Garcia-Rodenas C., Gachon P., Fauquant J., Callier P., 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.
42. Daenzer M., Petzke K.J., Bequette B.J., Metges C.C. Whole-body nitrogen and splanchnic amino acid metabolism differ in rats fed mixed diets containing casein or its corresponding amino acid mixture. JNutr 2001, 131:1965-1972.
43. Deglaire A., Fromentin C., Fouillet H., Airinei G., Gaudichon C., Boutry C., 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.
44. Fouillet H., Mariotti F., Gaudichon C., Bos C., Tomé D. Peripheral and splanchnic metabolism of dietary nitrogen are differently affected by the protein source in humans as assessed by compartmental modeling. JNutr 2002, 132:125-133.
45. Jones B.J., Lees R., Andrews J., Frost P., Silk D.B. Comparison of an elemental and polymeric enteral diet in patients with normal gastrointestinal function. Gut 1983, 24:78-84.
46. Herrmann M.E., Brösicke H.G., Keller M., Mönch E., Helge H. Dependence of the utilization of a phenylalanine-free amino acid mixture on different amounts of single dose ingested. A case report. Eur J Pediatr 1994, 153:501-503.
47. Mönch E., Herrmann M.E., Brösicke H., Schöffer A., Keller M. Utilisation of amino acid mixtures in adolescents with phenylketonuria. Eur J Pediatr 1996, 155(Suppl. 1):S115-S120.
48. Hasler C.M., Brown A.C. Position of the American Dietetic Association: functional foods. JAm Diet Assoc 2009, 109:735-746.
49. Rocha J.C., Almeida M.F., Carmona C., Cardoso M.L., Borges N., Soares I., et al. The use of prealbumin concentration as a biomarker of nutritional status in treated phenylketonuric patients. Ann Nutr Metab 2010, 56:207-211.
50. Acosta P.B., Yannicelli S. Ross metabolic formula system: nutrition support protocols 2001, Ross Laboratories, Columbus, OH. 4th ed.
51. MacDonald A., Lilburn M., Cochrane B., Davies P., Daly A., Asplin D., et al. Anew, low-volume protein substitute for teenagers and adults with phenylketonuria. JInherit Metab Dis 2004, 27:127-135.
52. Prince A.P., McMurray M.P., Buist N.R. Treatment products and approaches for phenylketonuria: improved palatability and flexibility demonstrate safety, efficacy and acceptance in US clinical trials. JInherit Metab Dis 1997, 20:486-498.
53. Blau N., Bélanger-Quintana A., Demirkol M., Feillet F., Giovannini M., MacDonald A., et al. Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Mol Genet Metab 2009, 96:158-163.
54. Singh R.H., Quirk M.E., Douglas T.D., Brauchla M.C. BH(4) therapy impacts the nutrition status and intake in children with Phenylketonuria: 2-year follow-up. JInherit Metab Dis 2010, 33:689-695.