Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes

Molecular Genetics and Metabolism

Volumn 98, Issue 4, 2009, Pages 331-337

  MacLeod, Erin L ^a   Gleason, Sally T ^a   van Calcar, Sandra C ^b   Ney, Denise M ^a,b  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

Amino acid requirements; Genotype phenotype relationship; Low phenylalanine diet; PKU

Indexed keywords

PHENYLALANINE;

ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; BODY MASS; BODY WEIGHT; CALORIC INTAKE; CARBOHYDRATE INTAKE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL PROTOCOL; DIETITIAN; FAT INTAKE; FEMALE; GENDER; GENE MUTATION; GENOTYPE; HUMAN; MALE; OBESITY; PHENYLKETONURIA; PRIORITY JOURNAL; PROTEIN INTAKE;

ADAPTATION, PHYSIOLOGICAL; ADULT; BODY WEIGHT; DIET; FEMALE; GENOTYPE; HUMANS; MALE; PHENYLALANINE; PHENYLKETONURIAS; YOUNG ADULT;

EID: 70350620454     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.07.016     Document Type: Article

References (47)

1. J. Donlon, H. Levy, C. Scriver, Hyperphenylalaninemia: phenylalanine hydroxylase deficiency, in: C. Scriver, A. BeaudetW. Sly, D. Valle (Eds.), Metabolic and Molecular Basis of Inherited Disease, McGraw-Hill, 2007 (Chapter 77). Available from: http://www.ommbid.com.
2. Koch R., Burton B., Hoganson G., Peterson R., Rhead W., Rouse B., Scott R., Wolff J., Stern A.M., Guttler F., Nelson M., De la Cruz J., Coldwell J., Erbe R., Geraghty M.T., Shear C., Thomas J., and Azen C. Phenylketonuria in adulthood: a collaborative study. J. Inherit. Metab. Dis. 25 (2002) 333-346
3. Guttler F., and Guldberg P. The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency. Eur. J. Pediatr. 155 Suppl. 1 (1996) S6-S10
4. IOM, Dietary reference intakes for energy, carbohydrates, fiber, fat, protein and amino acids (macronutrients), Washington, DC, 2002.
5. WHO, Protein and amino acid requirements in human nutrition, Geneva, 2007.
6. Cleary M., and Walter J.H. Assessment of adult phenylketonuria. Ann. Clin. Biochem. 38 (2001) 450-458
7. NIH. Phenylketonuria (PKU): screening and management. NIH Consens. Statement 17 (2000) 1-33
8. Smith I. Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria. Arch. Dis. Child. 68 (1993) 426-427
9. P. Acosta, S. Yannicelli, Protocol 1-phenylketonuria (PKU), in: The Ross Metabolic Formula System Nutrition Support Protocols, fourth ed., Ross Products Division/Abbot Laboratories, Columbus, 2001, pp. 1-48.
10. Scriver C.R., Hurtubise M., Prevost L., Phommarinh M., Konecki D., Erlandsen H., Walters P.J., Ryan S., McDonald D., and Sarkissian C. A PAH Gene Knowledge Base: Content, Informatics, Utilization (2006), Heilbronn, Germany
11. Scriver C.R., and Waters P.J. Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet. 15 (1999) 267-272
12. Kayaalp E., Treacy E., Waters P.J., Byck S., Nowacki P., and Scriver C.R. Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. Am. J. Hum. Genet. 61 (1997) 1309-1317
13. Scriver C.R. The PAH gene, phenylketonuria, and a paradigm shift. Hum. Mutat. 28 (2007) 831-845
14. Sarkissian C.N., Gamez A., and Scriver C.R. What we know that could influence future treatment of phenylketonuria. J. Inherit. Metab. Dis. 32 (2009) 3-9
15. Guldberg P., Rey F., Zschocke J., Romano V., Francois B., Michiels L., Ullrich K., Hoffmann G.F., Burgard P., Schmidt H., Meli C., Riva E., Dianzani I., Ponzone A., Rey J., and Guttler F. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am. J. Hum. Genet. 63 (1998) 71-79
16. Guttler F., Azen C., Guldberg P., Romstad A., Hanley W.B., Levy H.L., Matalon R., Rouse B.M., Trefz F., de la Cruz F., and Koch R. Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study. Pediatrics 104 (1999) 258-262
17. Jennings I.G., Cotton R.G., and Kobe B. Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria. Eur. J. Hum. Genet. 8 (2000) 683-696
18. Kasnauskiene J., Cimbalistiene L., and Kucinskas V. Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania. Med. Sci. Monit. 9 (2003) CR142-CR146
19. Bercovich D., Elimelech A., Zlotogora J., Korem S., Yardeni T., Gal N., Goldstein N., Vilensky B., Segev R., Avraham S., Loewenthal R., Schwartz G., and Anikster Y. Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene. J. Hum. Genet. 53 (2008) 407-418
20. Stojiljkovic M., Jovanovic J., Djordjevic M., Grkovic S., Cvorkov Drazic M., Petrucev B., Tosic N., Karan Djurasevic T., Stojanov L., and Pavlovic S. Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro. Clin. Genet. 70 (2006) 151-155
21. Brenton D.P., Tarn A.C., Cabrera-Abreu J.C., and Lilburn M. Phenylketonuria: treatment in adolescence and adult life. Eur. J. Pediatr. 155 Suppl. 1 (1996) S93-S96
22. Koch R., Azen C., Friedman E.G., Fishler K., Baumann-Frischling C., and Lin T. Care of the adult with phenylketonuria. Eur. J. Pediatr. 155 Suppl. 1 (1996) S90-S92
23. van Spronsen F.J., Ahring K.K., and 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. 32 (2009) 58-64
24. Burlina A., and Blau N. Effect of BH(4) supplementation on phenylalanine tolerance. J. Inherit. Metab. Dis. 32 (2009) 40-45
25. Sarkissian C.N., Gamez A., Wang L., Charbonneau M., Fitzpatrick P., Lemontt J.F., Zhao B., Vellard M., Bell S.M., Henschell C., Lambert A., Tsuruda L., Stevens R.C., and Scriver C.R. Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria. Proc. Natl. Acad. Sci. USA 105 (2008) 20894-20899
26. Singh R., Jurecki E., and Rohr F. Recommendations for personalized dietary adjustments based on patient response to tetrahydrobiopterin (BH4) in phenylketonuria. Top. Clin. Nutr. 23 (2008) 149-157
27. Blau N., Belanger-Quintana A., Demirkol M., Feillet F., Giovannini M., MacDonald A., Trefz F.K., and van Spronsen F.J. Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Mol. Genet. Metab. 96 (2009) 158-163
28. van Spronsen F.J., van Rijn M., Dorgelo B., Hoeksma M., Bosch A.M., Mulder M.F., de Klerk J.B., de Koning T., Rubio-Gozalbo M.E., de Vries M., and Verkerk P.H. Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU. J. Inherit. Metab. Dis. 32 (2009) 27-31
29. Van Calcar S.C., Macleod E.L., Gleason S.T., Etzel M.R., Clayton M.K., Wolff J.A., and Ney D.M. Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids. Am. J. Clin. Nutr. 89 (2009) 1068-1077
30. Ney D.M., Gleason S.T., Van Calcar S.C., Macleod E.L., Nelson K.L., Etzel M.R., Rice G.M., and Wolff J.A. Nutritional management of PKU with glycomacropeptide from cheese whey. J. Inherit. Metab. Dis. 32 (2009) 32-39
31. Pai M.P., and Paloucek F.P. The origin of the "ideal" body weight equations. Ann. Pharmacother. 34 (2000) 1066-1069
32. V. Schuett, Low Protein Food List for PKU, vol. 2, National PKU News, Seattle, WA, 2002.
33. A.R.S. U.S. Department of Agriculture, USDA Nutrient Database for Standard Reference, Release 18, 2005.
34. Rashed M.S., Ozand P.T., Bucknall M.P., and Little D. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr. Res. 38 (1995) 324-331
35. Guldberg P., Romano V., Ceratto N., Bosco P., Ciuna M., Indelicato A., Mollica F., Meli C., Giovannini M., Riva E., et al. Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe. Hum. Mol. Genet. 2 (1993) 1703-1707
36. Courtney-Martin G., Bross R., Raffi M., Clarke J.T., Ball R.O., and Pencharz P.B. Phenylalanine requirement in children with classical PKU determined by indicator amino acid oxidation. Am. J. Physiol. Endocrinol. Metab. 283 (2002) E1249-E1256
37. 13C]phenylalanine. Am. J. Physiol. 259 (1990) E835-E843
38. Acosta P.B., Matalon K., Castiglioni L., Rohr F.J., Wenz E., Austin V., and Azen C. Intake of major nutrients by women in the Maternal Phenylketonuria (MPKU) Study and effects on plasma phenylalanine concentrations. Am. J. Clin. Nutr. 73 (2001) 792-796
39. Kindt E., and 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. 33 (1980) 279-286
40. Kaufman S. A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients. Proc. Natl. Acad. Sci. USA 96 (1999) 3160-3164
41. Bross R., Ball R.O., Clarke J.T., and Pencharz P.B. Tyrosine requirements in children with classical PKU determined by indicator amino acid oxidation. Am. J. Physiol. Endocrinol. Metab. 278 (2000) E195-E201
42. Huemer M., Huemer C., Moslinger D., Huter D., and Stockler-Ipsiroglu S. Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature. J. Inherit. Metab. Dis. 30 (2007) 694-699
43. Allen J.R., McCauley J.C., Waters D.L., O'Connor J., Roberts D.C., and Gaskin K.J. Resting energy expenditure in children with phenylketonuria. Am. J. Clin. Nutr. 62 (1995) 797-801
44. J.C. Wells, Lessons from body composition analysis, in: B.A. Bowman, R. M. Russell (Eds.), Present Knowledge in Nutrition, International Life Sciences Institute, Washington, DC, 2006, pp. 23-33.
45. MacDonald A., Rylance G., Davies P., Asplin D., Hall S.K., and Booth I.W. Administration of protein substitute and quality of control in phenylketonuria: a randomized study. J. Inherit. Metab. Dis. 26 (2003) 319-326
46. Crone M.R., van Spronsen F.J., Oudshoorn K., Bekhof J., van Rijn G., and Verkerk P.H. Behavioural factors related to metabolic control in patients with phenylketonuria. J. Inherit. Metab. Dis. 28 (2005) 627-637
47. van Spronsen F.J., and Burgard P. The truth of treating patients with phenylketonuria after childhood: the need for a new guideline. J. Inherit. Metab. Dis. 31 (2008) 673-679