Production of low protein products used in treatment of congenital metabolic diseases: a pilot study in the stage of experimental animals

Ülkemizde doğumsal metabolik hastalık sıklığı nadir değildir. Örneğin fenilketonüri sıklığı 1/4500’dir. Klasik fenilketonüri bir karaciğer enzimi olan fenilalanin hidroksilaz enzimi eksikliği sonucu oluşur. Tedavi edilmezse en ciddi klinik bulgusu zekâ geriliğidir. Erken ve etkin tedavi ile hastalık bulguları önlenebilir. Temel tedavi düşük proteinli ve düşük fenilalaninli tıbbi besinler kullanılan beslenme tedavisidir. Düşük proteinli ürünü oluşturmak için whey’den protein çöktürme veya aminoasit uzaklaştırma yöntemleri, izole soya proteinine veya whey proteinine serbest aminoasitler, vitaminler ve mineraller ekleme yöntemi kullanılabilir. Çalışmamızda son yöntemi tercih ettik. Ürünün yeterli besin öğeleri içerdiğini besin analizi ile gösterdik. Fenilalanin açısından tüketiminin güvenli sınırlarda olduğunu deney hayvanlarında gösterdik. Ürünü geliştirip insanlarda kullanıma uygun hale getirmek için çalışmaya devam edilmesi gerekmektedir.

Anahtar Kelimeler:

doğumsal metabolik anomaliler, zihinsel gerilik, terapötik beslenme, üretim, fenilketonüri, deneysel diyetler, doğumsal anomaliler

Doğumsal metabolik hastalıkların tedavisinde kullanılan düşük proteinli ürünlerin üretimi: deney hayvanları aşamasında bir pilot çalışma

Congenital metabolic diseases are not rare in Turkey. For instance, phenylketonuria frequency is 1/4500. Classic phenylketonuria occurs as a result of deficiency of phenylalanine hydroxylase which is a liver enzyme. If it is not treated, the most serious clinical finding of it is mental retardation. Signs of disease can be prevented with early and ef ective treatment. Basic treatment is nutrition therapy in which low protein and low phenylalanine medical foods are used. Methods such as protein precipitation from whey, amino acid disposal and adding free amino acids, vitamins and minerals to isolated soy protein or whey protein can be used in order to produce low protein product. We preferred the last method in the present study. We indicated via food analysis that product contains adequate nutrients. We demonstrated in experimental animals that consumption is at safe limits in terms of phenylalanine. It is necessary to continue the study in order develop and make the product suitable for use among human beings.

Keywords:

congenital metabolic anomalies, mental retardation, therapeutic diets, production, phenylketonuria, experimental diets, congenital abnormalities,

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1. Burton BK: Inborn errors of metabolism in infancy: A guide to diagnosis. Pediatrics, 102 (6): e69, 1998.
2. Kniffin CL: Phenylketonuria. McKusick VA: www3.ncbi.nlm.nih.gov/ omim/ PHENYLKETONURIA261600. Accesed: 20.07.2010.
3. Cockburn F, Barwel BE, Brenton DP, Chapple J, Clarck B, Curzon G, Davidson DC, Heeley AF, Laing SC, Lister-Cheese AF, Mc Donald I, Malcolm S, Pollitt RJ, Quinn D, Rylance G, Smith I, Stewart A, Surtees R, Thompson AJ, Tyfield L, Whittle MJ, Scriver JR, Frew J: Phenylketonuria, Report of the Medical Research Council Working Party on PKU. Arch Dis Child, 68, 426-427, 1993.
4. National Institutes of Health: Phenylketonuria: Screening and management. National Institutes of Health Consensus Development Conference Statement Online, 17 (3): 1-27, 2000.
5. Acosta PB, Yannicelli S: The Ross Metabolic System Nutrition Support Protocols. Ross Laboratories Publication, Ohio, 1993.
6. Sarkissian CN, Shao Z, Blain F, Peevers R, Su H, Heft R, Chang TMS, Scriver CR: A dif erent approach to treatment of phenylketonuria: Phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc Nat Acad Sci, 96, 2339-2344, 1999.
7. Vajro P, Strisciuglio P: Correction of phenylketonuria after liver trans- plantation in a child with cirrhosis. (Letter) New Eng J Med, 329, 363, 1993.
8. Eisensmith RC, Woo SLC: Gene therapy for phenylketonuria. Eur J Ped, 155 (1): S16-S19, 1996.
9. Report of Medical Research Council Working Party on PKU and Recommendations of the European Society for PKU on Dietary Management of PKU: British Guidelines for PKU Management: National PKU News, www.pkunews.org, 2000.
10. Singh RH, Kable JA, Guerrero NV, Sullivan KM, Elsas LJ: Impact of experience on phenylalanine levels, knowledge, attitudes, and healt biliefs relevant to nutrition management of phenylketonuria. J Am Diet Assoc 100, 797-803, 2000.
11. Van Spronsen FJ, Van Rijin M, Bekof J, Koch R, Smit PGA: Phenyl- ketonuria: Tyrosine supplementation in phenylalanine-restricted diets. Am J Clin Nutr, 73, 153-157, 2001.
12. Greeves LG, Patterson CC, Carson DJ, Thom R, Wolfenden MC, Zschocke J, Graham CA, Nevin NC, Trimble ER: Ef ect of genotype on changes in intelligence quotient after dietary relaxation in phenyl- ketonuria and hyperphenylalaninaemia. Arch Dis Child, 82, 216-221, 2000.
13. Lopez-Bajonero LJ, Lara-Calderon P, Galvez-Mariscal A, Velazques- Arellano A, Lopez-Munguia A: Enzimatic production of a low-phenyl- alanine product from skim milk powder and caseinate. J Food Sci, 56 (4): 938-942, 1991.
14. Acosta PJB, Grondalski RA, Liebrecht JW, Reynolds PA: Medical foods for the nutritional support of infant/toddler metabolic diseases. United States Patent 5, 550, 146, 1996.
15. Aggett PJ: Research priorities in complementary feeding: International Paediatric Association (IPA) and European Society of Peadiatric Gastro- enterology, Hepatology, and Nutrition (ESPGAN) WORKSHOP: Pediatrics, 106 (5): 1271-1305, 2000.
16. Subcommittee on the Tenth Edition of the RDAs Food and Nutrition Board Commission on Life Sciences National Research Council: Recommended Dietary Allowances, 10th ed., National Academy Press. Wasthington DC, 1989.
17. European Commission-Scientific Committee on Food: Report of the Scientific Commission on Food on the Revision of Essential Requirements of Infant Formulae and Follow-on Formulae. Brussels: SCF/ CS/NUT/IF/65Final, 2003.
18. Gruetzmacher TJ, Bradley RL: Acid whey as a replacement for sodium caseinate in spray dried cof ee whiteners. J Dairy Sci, 74, 2838-2849, 1991.
19. Hollar CM, Law ARJ, Dalglleish DG, Brown RJ: Separation of major casein fractions using cation-exchange fast protein liquid chromato- graphy. J Dairy Sci, 74, 2403-2409, 1993.
20. Imafidon GI, Farkye NY, Spanier AM: Isolation, purification, and alteration of some functional groups of major milk proteins: A review. Crit Rew Food Sci Nutr, 37 (7): 663-689, 1997.
21. Morr CV, Ha YW: Whey protein concentrates and isolates: Processing and functional properties. Crit Rew Food Sci Nutr, 33 (6): 431-476, 1993.
22. Watt BK, Merrill AL: Composition of Foods. Agriculture Handbook, 8th ed., pp. 159-161, Washington, DC, 1975.
23. Kenneth Herrich: Official Methods of Analysis of the Association of Official Analytical Chemists. Fifteenth ed., Arlington, Virginia, 1990.
24. Manz U, Philipp K: A method for the routine determination of vitamin A. Department of Vitamin Research and Development, Roche, Basel, Switzerland, 1988.
25. Kenneth Herrich: Official Methods of Analysis of the Association of Official Analytical Chemists, 16th ed., Arlington, Virginia, 1995.
26. Finglasa PM, Faulks RM: The HPLC analysis of thiamin and ribol avin in potatoes. Food Chemi, 15 (1): 37-44, 1984.
27. Manz U, Philipp K: A method for the routine determination of atocopherol in complete feeds, premixes and vitamin concentrates with the aid of high performance liquid chromatography. Int J Vitam Nutr Res, 51, 342-348, 1981.
28. Vulleumier JP, Probst HT, Brubacher G: Handbook der Lebensmittel- chemic, Berlin, Heidelberg, 2nd ed., 669-876, New York, Springer, 1967.
29. Rizzolo A, Polesellob S: General review chromatographic determination of vitamins in foods. J Chrom A, 624, 103-152, 1992.
30. Guler GO, Çakmak YS, Zengin G, Aktumsek A, Akyıldız K: Fatty acid composition and conjugated linoleic acid (CLA) content of some commercial milk in Turkey. Kafkas Univ Vet Fak Derg, 16 (Suppl-A): S37- S40, 2010.