PKU Nutrition Management Guidelines
First Edition
March 2015, v.1.12
Updated: August 2016
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Analyzed Literature

ID Reference
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Acosta, P.B. (2010, April). Questions and/or Concerns with Use of GMP, Peg-PAL and the Home Monitor in Patients with PKU. [PowerPoint slides]. Paper presented at the 3rd GMDI Conference. Baltimore, Maryland.
Acosta, P.B., Matalon, K., Castiglioni, L., Rohr, F.J., Wenz, E., Austin, V., & Azen, C. (Apr 2001). Intake of major nutrients by women in the Maternal Phenylketonuria (MPKU) Study and effects on plasma phenylalanine concentrations. Am. J. Clin. Nutr., 73(4):792-6.
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Ahring, K., Bélanger-Quintana, A., Dokoupil, K., Gokmen Ozel, H., Lammardo, A.M., MacDonald, A., Motzfeldt, K., Nowacka, M., Robert, M., & van Rijn, M. (Jun 2009). Dietary management practices in phenylketonuria across European centres. Clin Nutr, 28, 231-6. doi:10.1016/j.clnu.2009.03.004
Ahring, K., Bélanger-Quintana, A., Dokoupil, K., Gokmen-Ozel, H., Lammardo, A.M., MacDonald, A., Motzfeldt, K., Nowacka, M., Robert, M., & van Rijn, M. (Feb 2011). Blood phenylalanine control in phenylketonuria: a survey of 10 European centres. Eur J Clin Nutr, 65, 275-8. doi:10.1038/ejcn.2010.258
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Albersen, M., Bonthuis, M., de Roos, N.M., van den Hurk, D.A., Carbasius Weber, E., Hendriks, M.M., de Sain-van der Velden, M.G., de Koning, T.J., & Visser, G. (Dec 2010). Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage. J. Inherit. Metab. Dis., 33 Suppl 3, S283-8. doi:10.1007/s10545-010-9149-8
Alves, M.R., Starling, A.L., Kanufre, V.C., Soares, R.D., Norton, R.d.e. .C., Aguiar, M.J., & Januario, J.N. (2012 Sep-Oct). Selenium intake and nutritional status of children with phenylketonuria in Minas Gerais, Brazil. J Pediatr (Rio J), 88, 396-400. doi:doi:10.2223/JPED.2217
Ambroszkiewicz, J., Gajewska, J., & Laskowska-Klita, T. (Mar 2004). A study of bone turnover markers in prepubertal children with phenylketonuria. Eur. J. Pediatr., 163, 177-8. doi:10.1007/s00431-003-1394-5
American College of Medical Genetics and Genomics Therapeutics Committee, Vockley, J., Andersson, H.C., Antshel, K.M., Braverman, N.E., Burton, B.K., Frazier, D.M., Mitchell, J., Smith, W.E., Thompson, B.H., & Berry, S.A. (Feb 2014). Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet. Med., 16, 188-200. doi:10.1038/gim.2013.157
Anastasoaie, V., Kurzius, L., Forbes, P., & Waisbren, S. (2008 Sep-Oct). Stability of blood phenylalanine levels and IQ in children with phenylketonuria. Mol. Genet. Metab., 95, 17-20. doi:10.1016/j.ymgme.2008.06.014
Anderson, P.J., Wood, S.J., Francis, D.E., Coleman, L., Warwick, L., Casanelia, S., Anderson, V.A., & Boneh, A. (Apr 2004). Neuropsychological functioning in children with early-treated phenylketonuria: impact of white matter abnormalities. Dev Med Child Neurol, 46(4):230-8.
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Angelino, A.F., Bone, A., & Kuehl, A.K. (2012 Nov-Dec). A neuropsychiatric perspective of phenylketonuria II: needs assessment for a psychiatric presence. Psychosomatics, 53, 541-9. doi:10.1016/j.psym.2012.04.011
Antshel, K.M., & Waisbren, S.E. (Dec 2003). Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expression. J Abnorm Child Psychol, 31(6):565-74.
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Antshel, K.M., Brewster, S., & Waisbren, S.E. (Mar 2004). Child and parent attributions in chronic pediatric conditions: phenylketonuria (PKU) as an exemplar. J Child Psychol Psychiatry, 45(3):622-30.
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Bachmann, C. (Feb 2008). Interpretation of plasma amino acids in the follow-up of patients: the impact of compartmentation. J. Inherit. Metab. Dis., 31, 7-20. doi:10.1007/s10545-007-0772-y
Ballhausen, D., Egli, D., Bickle-Graz, M., Bianchi, N., & Bonafé, L. (Sep 2011). Born at 27 weeks of gestation with classical PKU: challenges of dietetic management in a very preterm infant. Pediatr Rep, 3, e26. doi:10.4081/pr.2011.e26
Barretto, J.R., Silva, L.R., Leite, M.E., Boa-Sorte, N., Pimentel, H., Purificação, A.C., Carvalho, G., Fontes, M.I., & Amorim, T. (Mar 2008). Poor zinc and selenium status in phenylketonuric children and adolescents in Brazil. Nutr Res, 28, 208-11. doi:10.1016/j.nutres.2007.12.009
Beblo, S., Reinhardt, H., Demmelmair, H., Muntau, A.C., & Koletzko, B. (May 2007). Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria. J. Pediatr., 150, 479-84. doi:10.1016/j.jpeds.2006.12.011
Berry, S.A., Brown, C., Grant, M., Greene, C.L., Jurecki, E., Koch, J., Moseley, K., Suter, R., van Calcar, S.C., Wiles, J., & Cederbaum, S. (Aug 2013). Newborn screening 50 years later: access issues faced by adults with PKU. Genet. Med., 15, 591-9. doi:10.1038/gim.2013.10
Bhat, M., Haase, C., & Lee, P.J. (2005). Social outcome in treated individuals with inherited metabolic disorders: UK study. J. Inherit. Metab. Dis., 28, 825-30. doi:10.1007/s10545-005-0159-x
Bik-Multanowski, M., Didycz, B., Mozrzymas, R., Nowacka, M., Kaluzny, L., Cichy, W., Schneiberg, B., Amilkiewicz, J., Bilar, A., Gizewska, M., Lange, A., Starostecka, E., Chrobot, A., Wojcicka-Bartlomiejczyk, B.I., & Milanowski, A. (Dec 2008). Quality of life in noncompliant adults with phenylketonuria after resumption of the diet. J. Inherit. Metab. Dis., 31 Suppl 2, S415-8. doi:10.1007/s10545-008-0978-7
Blau, N. (Sep 2013). Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias. Expert Opin Drug Metab Toxicol, 9, 1207-18. doi:10.1517/17425255.2013.804064
Bone, A., Kuehl, A.K., & Angelino, A.F. (2012 Nov-Dec). A neuropsychiatric perspective of phenylketonuria I: overview of phenylketonuria and its neuropsychiatric sequelae. Psychosomatics, 53, 517-23. doi:10.1016/j.psym.2012.04.010
Bosch, A.M., Maurice-Stam, H., Wijburg, F.A., & Grootenhuis, M.A. (Dec 2009). Remarkable differences: the course of life of young adults with galactosaemia and PKU. J. Inherit. Metab. Dis., 32, 706-12. doi:10.1007/s10545-009-1253-2
Bosch, A.M., Tybout, W., van Spronsen, F.J., de Valk, H.W., Wijburg, F.A., & Grootenhuis, M.A. (Feb 2007). The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria. J. Inherit. Metab. Dis., 30, 29-34. doi:10.1007/s10545-006-0433-6
Bouchlariotou, S., Tsikouras, P., & Maroulis, G. (Oct 2009). Undiagnosed maternal phenylketonuria: own clinical experience and literature review. J. Matern. Fetal. Neonatal. Med., 22, 943-8. doi:10.1080/14767050902994697
Brenton, D.P., & Pietz, J. (Oct 2000). Adult care in phenylketonuria and hyperphenylalaninaemia: the relevance of neurological abnormalities. Eur. J. Pediatr., 159 Suppl 2:S114-20.
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Burrage, L.C., McConnell, J., Haesler, R., O'Riordan, M.A., Sutton, V.R., Kerr, D.S., & McCandless, S.E. (Sep 2012). High prevalence of overweight and obesity in females with phenylketonuria. Mol. Genet. Metab., 107, 43-8. doi:10.1016/j.ymgme.2012.07.006
Burton, B.K., & Leviton, L. (2010 Oct-Nov). Reaching out to the lost generation of adults with early-treated phenylketonuria (PKU). Mol. Genet. Metab., 101, 146-8. doi:10.1016/j.ymgme.2010.06.006
Camp, K.M., Lloyd-Puryear, M.A., & Huntington, K.L. (Sep 2012). Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example. Mol. Genet. Metab., 107, 3-9. doi:10.1016/j.ymgme.2012.07.005
Camp, K.M., Parisi, M.A., Acosta, P.B., Berry, G.T., Bilder, D.A., Blau, N., Bodamer, O.A., Brosco, J.P., Brown, C.S., Burlina, A.B., Burton, B.K., Chang, C.S., Coates, P.M., Cunningham, A.C., Dobrowolski, S.F., Ferguson, J.H., Franklin, T.D., Frazier, D.M., Grange, D.K., Greene, C.L., Groft, S.C., Harding, C.O., Howell, R.R., Huntington, K.L., Hyatt-Knorr, H.D., Jevaji, I.P., Levy, H.L., Lichter-Konecki, U., Lindegren, M.L., Lloyd-Puryear, M.A., Matalon, K., MacDonald, A., McPheeters, M.L., Mitchell, J.J., Mofidi, S., Moseley, K.D., Mueller, C.M., Mulberg, A.E., Nerurkar, L.S., Ogata, B.N., Pariser, A.R., Prasad, S., Pridjian, G., Rasmussen, S.A., Reddy, U.M., Rohr, F.J., Singh, R.H., Sirrs, S.M., Stremer, S.E., Tagle, D.A., Thompson, S.M., Urv, T.K., Utz, J.R., van Spronsen, F., Vockley, J., Waisbren, S.E., Weglicki, L.S., White, D.A., Whitley, C.B., Wilfond, B.S., Yannicelli, S., & Young, J.M. (Jun 2014). Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol. Genet. Metab., 112, 87-122. doi:10.1016/j.ymgme.2014.02.013
Cappelletti, S., Cotugno, G., Goffredo, B.M., Nicolò, R., Bernabei, S.M., Caviglia, S., & Di Ciommo, V. (2013 Jul-Aug). Cognitive findings and behavior in children and adolescents with phenylketonuria. J Dev Behav Pediatr, 34, 392-8. doi:10.1097/DBP.0b013e31829a79ef
Cerone, R., Andria, G., Giovannini, M., Leuzzi, V., Riva, E., & Burlina, A. (Mar 2013). Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. Adv Ther, 30, 212-28. doi:10.1007/s12325-013-0011-x
Channon, S., Mockler, C., & Lee, P. (Sep 2005). Executive functioning and speed of processing in phenylketonuria. Neuropsychology, 19, 679-86. doi:10.1037/0894-4105.19.5.679
Colomé, C., Artuch, R., Sierra, C., Brandi, N., Lambruschini, N., Campistol, J., & Vilaseca, M.A. (Aug 2003). Plasma thiols and their determinants in phenylketonuria. Eur J Clin Nutr, 57, 964-8. doi:10.1038/sj.ejcn.1601631
Cotugno, G., Nicolò, R., Cappelletti, S., Goffredo, B.M., Dionisi Vici, C., & Di Ciommo, V. (Aug 2011). Adherence to diet and quality of life in patients with phenylketonuria. Acta Paediatr., 100, 1144-9. doi:10.1111/j.1651-2227.2011.02227.x
Courtney-Martin, G., Bross, R., Raffi, M., Clarke, J.T., Ball, R.O., & Pencharz, P.B. (Dec 2002). Phenylalanine requirement in children with classical PKU determined by indicator amino acid oxidation. Am. J. Physiol. Endocrinol. Metab., 283, E1249-56. doi:10.1152/ajpendo.0319.2001
Cunningham, A. (2012, April). PKU Treatment The nuts and bolts for those new to PKU Management. [PowerPoint slides]. Paper presented at the 4th GMDI Conference. New Orleans, Louisiana.
Cunningham, A., Bausell, H., Brown, M., Chapman, M., DeFouw, K., Ernst, S., McClure, J., McCune, H., O'Steen, D., Pender, A., Skrabal, J., Wessel, A., Jurecki, E., Shediac, R., Prasad, S., Gillis, J., & Cederbaum, S. (Jul 2012). Recommendations for the use of sapropterin in phenylketonuria. Mol. Genet. Metab., 106, 269-76. doi:10.1016/j.ymgme.2012.04.004
Dawson, C., Murphy, E., Maritz, C., Chan, H., Ellerton, C., Carpenter, R.H., & Lachmann, R.H. (Apr 2011). Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time. J. Inherit. Metab. Dis., 34, 449-54. doi:10.1007/s10545-010-9276-2
de Sonneville, L.M., Huijbregts, S.C., van Spronsen, F.J., Verkerk, P.H., Sergeant, J.A., & Licht, R. (2010). Event-related potential correlates of selective processing in early- and continuously-treated children with phenylketonuria: effects of concurrent phenylalanine level and dietary control. Mol. Genet. Metab., 99 Suppl 1, S10-7. doi:10.1016/j.ymgme.2009.10.177
Di Ciommo, V., Forcella, E., & Cotugno, G. (Apr 2012). Living with phenylketonuria from the point of view of children, adolescents, and young adults: a qualitative study. J Dev Behav Pediatr, 33, 229-35. doi:10.1097/DBP.0b013e3182460d8a
Dobbelaere, D., Michaud, L., Debrabander, A., Vanderbecken, S., Gottrand, F., Turck, D., & Farriaux, J.P. (2003). Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria. J. Inherit. Metab. Dis., 26(1):1-11.
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Elsas, L.J., Greto, J., & Wierenga, A. (Apr 2011). The effect of blood phenylalanine concentration on Kuvan™ response in phenylketonuria. Mol. Genet. Metab., 102, 407-12. doi:10.1016/j.ymgme.2010.12.003
Ernst, S., Hartnett, C., Francis, D., Moseley, K., Tonyes, L. (2008, September 18). NICU and PKU.  Message posted to Metabolic Dietician List,  <PNO-METAB-L@LISTSERV.CC.EMORY.EDU>
Feillet, F., & Agostoni, C. (Dec 2010). Nutritional issues in treating phenylketonuria. J. Inherit. Metab. Dis., 33, 659-64. doi:10.1007/s10545-010-9043-4
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Feillet, F., MacDonald, A., Hartung Perron, D., & Burton, B. (2010). Outcomes beyond phenylalanine: an international perspective. Mol. Genet. Metab., 99 Suppl 1, S79-85. doi:10.1016/j.ymgme.2009.09.015
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Frank, N., Fitzgerald, R., & Legge, M. (2007). Phenylketonuria--the lived experience. N. Z. Med. J., 120(1262):U2728.
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Freehauf, C., Van Hove, J.L., Gao, D., Bernstein, L., & Thomas, J.A. (Jan 2013). Impact of geographic access to care on compliance and metabolic control in phenylketonuria. Mol. Genet. Metab., 108, 13-7. doi:10.1016/j.ymgme.2012.09.026
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Hanley, W.B., Lee, A.W., Hanley, A.J., Lehotay, D.C., Austin, V.J., Schoonheyt, W.E., Platt, B.A., & Clarke, J.T. (Apr 2000). "Hypotyrosinemia" in phenylketonuria. Mol. Genet. Metab., 69, 286-94. doi:10.1006/mgme.2000.2985
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Hoeksma, M., Van Rijn, M., Verkerk, P.H., Bosch, A.M., Mulder, M.F., de Klerk, J.B., de Koning, T.J., Rubio-Gozalbo, E., de Vries, M., Sauer, P.J., & van Spronsen, F.J. (2005). 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., 28, 845-54. doi:10.1007/s10545-005-0122-x
Huemer, M., Födinger, M., Bodamer, O.A., Mühl, A., Herle, M., Weigmann, C., Ulmer, H., Stöckler-Ipsiroglu, S., & Möslinger, D. (May 2008). Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria. Mol. Genet. Metab., 94, 46-51. doi:10.1016/j.ymgme.2007.12.001
Huijbregts, S.C., de Sonneville, L.M., Licht, R., van Spronsen, F.J., & Sergeant, J.A. (Oct 2002). Short-term dietary interventions in children and adolescents with treated phenylketonuria: effects on neuropsychological outcome of a well-controlled population. J. Inherit. Metab. Dis., 25(6):419-30.
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Illsinger, S., Lücke, T., Meyer, U., Vaske, B., & Das, A.M. (Feb 2005). Branched chain amino acids as a parameter for catabolism in treated phenylketonuria. Amino Acids, 28, 45-50. doi:10.1007/s00726-004-0150-0
Ipsiroglu, O.S., Herle, M., Spoula, E., Möslinger, D., Wimmer, B., Burgard, P., Bode, H., & Stöckler-Ipsiroglu, S. (Aug 2005). Transcultural pediatrics: compliance and outcome of phenylketonuria patients from families with an immigration background. Wien. Klin. Wochenschr., 117, 541-7. doi:10.1007/s00508-005-0327-x
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Koch, R., Moseley, K., & Guttler, F. (Dec 2005). Tetrahydrobiopterin and maternal PKU. Mol. Genet. Metab., 86 Suppl 1, S139-41. doi:10.1016/j.ymgme.2005.09.004
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Koch, R., Trefz, F., & Waisbren, S. (2010). Psychosocial issues and outcomes in maternal PKU. Mol. Genet. Metab., 99 Suppl 1, S68-74. doi:10.1016/j.ymgme.2009.10.014
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