medigraphic.com
Órgano Oficial del Instituto Nacional de Pediatría

2011, Número 2

<< Anterior Siguiente >>

Acta Pediatr Mex 2011; 32 (2)


Actualidades en el tratamiento nutricional de la fenilcetonuria

Guillén-López S, Vela-Amieva M

Idioma: Español
Referencias bibliográficas: 40
Paginas: 107-114
Archivo PDF: 282.16 Kb.


RESUMEN

La fenilcetonuria (PKU por sus siglas en inglés) es una enfermedad metabólica compleja; si no se diagnostica ni trata oportunamente causa retraso mental. El tratamiento nutricional se dificulta si no se conocen las recomendaciones para el empleo de macro y de micronutrimentos. Para la prescripción correcta del tratamiento se deben tomar en cuenta, además de los niveles sanguíneos de fenilalanina (PHE) y tirosina (TYR), múltiples factores, como la edad, el sexo, el patrón de crecimiento y las enfermedades intercurrentes. El objetivo de este artículo es mostrar algunos de los fundamentos básicos del tratamiento nutricional de esta enfermedad, con el fin de que sirvan de orientación a los profesionales de la salud involucrados en la terapia de PKU; se hace énfasis en el uso de proteínas y en el aspecto energético del tratamiento, así como en la necesidad de una estrecha vigilancia de los niveles del ácido docosahexaenóico (DHA), del hierro, calcio, selenio, zinc y vitaminas del complejo B en el organismo del paciente.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. http://www.ommbid.com/OMMBID/the_online_metabolic_and_molecular_bases_of_inherited_disease/b/abstract/part8/ch77 acceso Noviembre 2010.

  2. Bickel H, Gerrard J, Hickmans EM. Influence of phenylalanine intake on phenylketonuria. Lancet.1953;11:812-13.

  3. Walter J, Lee P, Burgard P. Hyperphenylalaninaemia, chapter 17, en: Fernandes J, Saudubray JM, Van den Berghe G, Walter J Inborn Metabolic Diseases 4th Edition. Diagnosis and Treatment, Germany: Springer Medizin Verlag; 2006. p. 221-31.

  4. Hanley WB, Linsao L, Davidson W, Moes CA. Malnutrition with early treatment of phenylketonuria. Pediatr Res 1970;4:318-327.

  5. Karam PE, Daher RT, Moller LB, Mikati MA, Experience with hyperphenylalaninemia in a developing country: Unsual clinical manifestations and novel gene mutation. J Child Neurol 2010;7 (en prensa). DOI: 10.1177/0883073810375116

  6. Acosta P, Michals K. Nutrition management of patients with inherited disorders of aromatic amino acid metabolism en: Acosta P. Nutrition Management of patients with inherited metabolic disorders, 1st edition, Sudbury MA: Jones and Bartlett Publisher; 2010. p. 119-74.

  7. Motzfeldt K, Lilje R, Nylander G. Breastfeeding in phenylketonuria. Acta Paediatrica 1999;432:25-7.

  8. Smith I, Lobascher ME, Stevenson JE, et al. Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria. Br Med J 1978;2:723-6.

  9. Hudson FP, Mordaunt VL, Leahy I. Evaluation of treatment begun in first three months of life in 184 cases of phenylketonuria. Arch Dis Child 1970;45:5-12.

  10. Waisbren SE, Noel K, Fahrbach K, Cella C, Frame D, Dorenbaum A, Levy H. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis, Mol Genet Metab 2007;92:63-70.

  11. Allen JR, McCauley JC, Waters DL, O’Connor J, Roberts DC, Gaskin KJ. Resting energy expenditure in children with phenylketonuria. Am J Clin Nutr 1995;62:797-801.

  12. Quirk ME, Schmotzer BJ, Singh RH. Predictive equations underestimate resting energy expenditure in female adolescents with phenylketonuria. J Am Diet Assoc 2010;110:922-5.

  13. MacDonald A, Chakrapani A, Hendriksz C, Daly A, Davies P, Asplin D, Hall K, Booth IW. Protein substitute dosage in PKU: how much do young patients need? Arch Dis Child 2006;91:588-93.

  14. Acosta P, Yannicelli S, Marriage B, Steiner R, Gaffield B, Arnold G, Lewis V, Cho S, Bernstein L, Parton P, Leslie N, Korson M. Protein status of infants with phenylketonuria undergoing nutrition management. J Am Coll Nutr 1999;18:102-7.

  15. Mönch E, Herrmann ME, Brösicke H, Schöffer A, Keller M. Utilisation of amino acid mixtures in adolescents with phenylketonuria. Eur J Pediatr 1996;155(Suppl 1):S115-20.

  16. Herrmann ME, Brösicke HG, 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;153:501-3.

  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. J Inherit Metab Dis 2007;30:694-9. 2007 Jul 11.(en prensa)DOI: 10.1007/S10545-007-0549-3

  18. Castillo M, Zafra MF, García–Peregrin E. Inhibition of brain and liver 3-hydroxy-3-methylglutaryl-CoA reductase and mevalonate-5-pyrophosphate decarboxylase in experimental hyperphenylalaninemia. Neurochem Res 1988;13:551-5.

  19. Koletzko B, Beblo S, Demmelmair H, Hanebutt F. Omega-3 LC-PUFA supply and neurological outcomes in children with phenylketonuria. J Pediatr Gastroenterol Nutr 2009;48:S2-S7.

  20. Mariotti F, Mahe S, Benamouzig R, Luengo C, Benamouzig R, Tome D. Postprandial modulation of dietary and whole-body nitrogen utilization by carbohydrates in humans. Am J Clin Nutr 2000;72:954-62.

  21. Gaudichon C, Mahe S, Benamouzig R, Luengo C, Fouillet H, Daré S, Van Oycke M, Ferrière F, Rautureau J, Tome D. Net postprandial utilization of (15N)-labeled milk protein nitrogen is influenced by diet composition in humans. J Nutr 1999;129:890-5.

  22. Alexander JW, Clayton BE, Delves HT. Mineral and trace-metal balances in children receiving normal and synthetic diets. Q J Med 1974;169:80-111.

  23. Lombeck I, Kasperek K, Harbisch HD, Becker K, Schumann E, Schröter W, et al. The selenium state of children. II. Selenium content of serum, whole blood, hair and the activity of erythrocyte glutathione peroxidase in dietetically treated patients with phenylketonuria and maple syrup-urine disease. Eur J Pediatr 1978;128:213-23.

  24. Acosta PB, Fernhoff PM, Warshaw HS, Hambidge KM, Ernest A, McCabe ER, et al. Zinc and copper status of treated children with phenylketonuria. JPEN J Parenter Enteral Nutr 1981;5:406-9.

  25. Taylor CJ, Moore G, Davidson DC. The effect of treatment on zinc, copper and calcium status in children with phenylketonuria. J Inherit Metab Dis 1984;7:160-4.

  26. McCabe ER, McCabe L. Issues in the dietary management of phenylketonuria: breast-feeding and trace-metal nutriture. Ann NY Acad Sci 1986;477:215-22.

  27. Acosta PB, Stepnick-Gropper S, Clarke-Sheehan N, Wenz E, Cheng M, Anderson K Koch R. Trace element status of PKU children ingesting an elemental diet. JPEN J Parenter Enteral Nutr 1987;11:287-92.

  28. Reilly C, Barrett JE, Patterson CM, Tinggi U, Latham SL, Marrinan A. Trace element nutrition status and dietary intake of children with phenylketonuria. Am J Clin Nutr 1990;52:159-65.

  29. Gropper SS, Yannicelli S, White BD, Medeiros DM. Plasma phenylalanine concentrations are associated with hepatic iron content in a murine model for phenylketonuria. Mol Genet Metab 2004;82:76-82.

  30. Yannicelli S, Medeiros DM, Elevated plasma phenylalanine concentrations may adversely affect bone status of phenylketnuric mice. J Inherit Metab Dis 2002;25:347-61.

  31. Adamczyk P, Morawiec-Knysak A, Pludowski P, Banaszak B, Karpe J, Pluskiewicz W, Bone metabolism and the musclebone relationship in children, adolescents and young adults with phenylketonuria, J Bone Miner Metab 2010; Aug 13 (en prensa) DOI: 10.1007/S00774-010-0216-x.

  32. Robinson M, White FJ, Cleary MA, Wraith E, Lam WK, Walter JH. Increased risk of Vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet. J Pediatr 2000;136:545-7.

  33. Hanley WB, Feigenbaum AS, Clarke JT, Schoonheyt WE, Austin VJ. Vitamin B12 deficiency in adolescents and young adults with phenylketonuria. Eur J Pediatr 1996;155:S145-7.

  34. Lewis JS, Loskill S, Bunker ML, Acosta PB, Kim R. N-methy lnicotinamide excretion of phenylketonuric children and a child with Hartnup disease before and after phenylalanine and tryptophan load. Fed Proc 1974;33:666A.

  35. Schulpis KH, Nyalala JO, Papakonstantinou ED, Leondiadis L, Livaniou E, Ithakisios D, et al. Biotin recycling impairment in phenylketonuric children with seborrheic dermatitis. Int J Dermatol 1998;37:918-21.

  36. Etzel MR. Manufacture and use of dairy protein fractions. J Nutr.2004;134:S996-1002.

  37. Van Calcar S, MacLeod E, Gleason S, Etzel M, Clayton M, Wolff J, Ney DM Improved nutritional management of phenylketonuria by using a diet containing glycomacropetide compared with amino acids. Am J Clin Nutr 2009;89:1068-77.

  38. van Spronsen FJ, De Groot MJ, Hoeksma M, Reijngoud DJ, Van Rijn M, Large neutral amino acids in the treatment of PKU: from theory to practice, J Inherit Metab Dis 2010;33:671-6.

  39. Burton BK, Adams DJ, Grange DK, Malone JI, Jurecki E, Bausell H, Marra KD, et al. Tetrahydrobiopterin therapy for phenylketonuria in infants and young children J Pediatr 2010; Sep 29 (en prensa). DOI:10.1016/j.jpeds.2010.08.016

  40. Camfield CS, Joseph M, Hurley T, Campbell K, Sanderson S, Camfield PR. Optimal management of phenylketonuria: a centralized expert team is more successful than a decentralized model of care. J Pediatr 2004;145:53-7.




2020     |     www.medigraphic.com