Calcium metabolism in phenilketonuria
Keywords:
Phenylketonuria, Bone density, Calcium metabolismAbstract
Phenylketonuria is an inborn error of the metabolism of the amino acid phenylalanine. The treatment is essentially dietetic and involves a severe restriction in the consumption of foods containing aminoacid phenylalanine. Although the diet is complemented with supplements in order to meet the vitamin, mineral and essential amino acid requirements, nutritional deficiencies still occur. This is mainly due to restricting the consumption of protein sources, which results in low intake of several nutrients, including calcium. Calcium is strongly related to bone mineral formation. Recent studies have demonstrated that patients with
phenylketonuria often present osteopenia and fractures, the greatest incidence being in children older than 8 years. Rapid growth, a calcium-deficient diet and elevated aminoacid phenylalanine plasma levels have been described as the principal factors responsible for inadequate bone formation. It has been shown that calcium-supplementation in healthy children had a positive effect on bone mass acquisition during prepuberty. Therefore, it is pertinent to understand the need of calcium-supplementation in phenylketonuria in order to promote full bone development.
References
Monteiro BTL, Candido BML. Fenilcetonúria no Brasil: evolução de casos. Rev Nutr. 2006; 19(3): 381-7.
Centerwall SA, Centerwall WR. The discovery of phenylketonuria: the story of a young couple, two retarded children and a scientist. Pediatrics. 2000; 105(1):89-103.
Scriver CR, Kaufman S, Wo SLC. The hyperphenilalaninemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Stanbury JB, Wyngaarden JB, editors. The metabolic basis of inherited disease. New York: McGraw-Hill; 1995.
Murray RK, Granner DK, Mayes PA, Rodwell VW. Harper: bioquímica. São Paulo: Atheneu; 1998.
Brasil. Ministério da Saúde. Manual de Normas Técnicas e Rotinas Operacionais do Programa Nacional de Triagem Neonatal. Brasília: MS; 2003.
Trefz FK, Schmidt H, Bartholomé K, Mahle M, Matthis P, Pecht G. Differential diagnosis and significance of various hyperphenylalaninemias. In: Bickel H, Watchtel U. Inherited diseases of amino acid metabolism. International Symposium. Heldeiberg; 1984. Stuttgart. Georg Thieme Verlag; 1985. p.86.
Machado AG. A importância da análise de ácidos orgânicos em fluidos biológicos [tese]. Rio de Janeiro: Universidade Federal do Rio de Janeiro; 2006.
Greve LC, Wheeler MD, Green-Burgeson DK, Zorn EM. Breast-feeding in the management of the newborn with phenylketonuria: a pratical approach to dietary therapy. J Am Diet Assoc. 1994; 94(3): 305-9.
Blau N, Bofané L., Blaskovics, M. Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism. In: Blau N, Duran M, Blaskovics ME, Gibson KM, editors. Physician’s Guide to the laboratory Diagnosis of Metabolic Diseases. 2nd ed. Heidelberg: SpringerVerlag; 2003.
Champe PC, Harvey RA. Metabolic defects in amino acid metabolism. In: Champe PC, Harvey RA. Biochemistry. 2nd ed. Philadelphia: JB Lippincott; 1994. p.253-5.
Bremer HJ, Anninos A, Schulz B. Amino acid composition of food products used in the treatment of patients with disorders of the amino acid and protein metabolism. Eur J Pediatr. 1996; 155 Suppl 1:S108-14.
Buist NRM, Prince AP, Huntington KL, Tuerck JM, Waggoner DD. A new amino acid mixture permits new approaches to the treatment of phenylketonuria. Acta Paediatr Suppl. 1994; 83(407):75-7
Mira N, Marquez UL. Importância do diagnóstico e tratamento da fenilcetonúria. Rev Saúde Pública. 2000; 34(1):215-23.
Brenton DP, Tam AC, Cabrera-Abreu JC, Lilburn M. Phenylketonuria: treatment in adolescence and adult life. Eur J Pediatr. 1996; 155 Suppl 1:S93-6.
Fisberg MR, Lopez FA, Morais MB. Programas de intervenção nutricional: análise crítica. Rev Paul Pediatr. 1984; 2(7):43-8.
Elsas II, L.J. Suporte nutricional nas doenças metabólicas hereditárias. 9a. ed. In: Shils ME, Olson JÁ, Shike M, Koss AC. Tratado de nutrição moderna na saúde e na doença. São Paulo: Manole; 2003. 2:1071-128.
Acosta, PB. A guide for the family of the child with phenylketonuria: the ross metabolic formula system. Georgia: Ross Metabolics; 2003.
Associação de Pais e Amigos dos Excepcionais de São Paulo. Capacitação em Terapia Nutricional para Pacientes Fenilcetonúricos. São Paulo: APAE - SP; 2005.
Przvrembel H, Bremer, H-J. Nutrition, physical growth, and bone density in treated phenylketonuria. Eur J Pediatr. 2000; 159(21):129-35.
Taylor CJ, Moore G, Davidson DC. The effect of treatment on zinc, cooper and calcium status in children with phenylketonuria. J Inherit Metabolism Disturb. 1984; 7(4):160-4.
Hilman L, Schlotzhauer C, Lee D, Grasela J, Witter S, Allen S, Hilman R. Decreased bone mineralization in children with phenilketonúria under treatment. Eur J Pediatr Radiol. 1996; 155(Suppl 1):S148-S52.
Acosta PB. Nutrition studies in treated infants and children with phenylketonuria: vitamins, minerals, trace elements. Eur J Pediatr. 1996; 155 Suppl 1:S136-9.
Shills E, Olson A, Shike M, Ross C. Modern nutrition in health and disease. 9th ed. São Paulo: Manole; 2003. 1:153.
Mahan LK, Arlin MT. Krause: alimentos, nutrição e dietoterapia. 8a. ed. São Paulo: Roca; 1994.
Nordin BEC. Calcium and osteoporosis. Nutrition. 1997; 13(7-8):664-86.
Dutra de Oliveira JE, Marchini JS. Ciências nutricionais. São Paulo: Sarvier; 1998.
Arnaud CD, Sanchez SD. Present knowledge in nutrition. Washington (DC): ILSI; 1990.
Brody T. Nutritional biochemistry. San Diego (CA): Academic Press; 1999.
Cummings SR, Kelsey JL, Nevitt MC, O‘Dowd KJ. Epidemiology of osteoporosis and osteoporotic fractures. Epidemiol Rev. 1985; 7:178-208.
Bonjour JP, Theintz G, Buchs B, Sloman D, Rizzoli R. Critical years and stages of puberty for spinal and femoral bone mass accumulation during adolescence. J Clin Endocrinol Metab. 1991; 73(3): 555-63.
Cromer B, Harel Z. Adolescents: at incresead risk for osteoporosis? Clin Pediatr. 2000; 39(10): 565-74.
National Academy of Sciences. Recommended dietary allowances. 10th ed. Washington (DC): National Academy Press; 1989.
Campos AML, Liphaus LB, Silva AAC, Pereira RMR. Osteoporose na infância e na adolescência. J Pediatr. 2003; 79(6):481-8.
Rozen SG, Rennert G, Dodiuk-Gad PR, Rennert SH, Ish-Shalom N, Diab G, et al. Calcium supplementation provides an extended window of opportunity for bone mass accretion after menarche. Am J Clin Nutr. 2003; 78(5):993-8.
Nowson CA, Green RM, Hopper JL, Sherwin AJ, Young D, Kaymakci B, et al. A co-twin study of the effect of calcium supplementation on bone density during adolescence. Osteoporos Int. 1997; 7(3): 219-25.
Lee WT, Leung SS, Wang SH, Xu YC, Zeng WP, Lau J, et al. Double-blind, controlled calcium supplementation and bone mineral accretion in children accustomed to a low-calcium diet. Am J Clin Nutr. 1994; 60(5):744-50.
Khan K, McKay H, Kannus P, Bailey D, Wark J, Bennell K. Physical activity and bone health. Champaign: Human Kinetics; 2001.
Cassidy JT. Osteopenia and osteoporosis in children. Clin Exp Rheumatol. 1999;17(2):245-50.
Schwahn B, Mokov E, Scheidhauer K, Lettgen B, Schonau E. Decresed trabecular bone mineral density in patients with phenilketonuria measured by peripheral quantitative computed tomography. Acta Paediatr. 1998; 87(1):61-3.
Greer FR, Marshall S. Bone mineral content, serum vitamin D metabolite con concentrations, and ultraviolet B light exposure in infants fed human milk with and without vitamin D2 supplements. J Pediatric. 1989; 114(2):204-12.
Golding A, Jones IE, Taylor RW, Manning PJ, Williams SM. More broken bones: a 4-year double cohort study of young girls with and without distal forearm fractures. J Bone Miner Res. 2000; 15(10):2011-8.
Carson DJ, Greeves LG, Sweeney LE, Crone MD. Osteopenia and phenylketonuria. Pediatr Radiol. 1990; 20(8):598.
Al-Qadreh A, Schulpis KH, Athanasopoulou H, Mengreli C, Skarpalezou A, Voskaki I. Bone mineral status in children with phenylketonúria under treatment. Acta Paediatric. 1998; 87(11):1162-6.
McMurry MP, Chan GM, Leonard CO, Ernst SL. Bone mineral status in children with phenylketonuria - relationship to nutritional intake and phenylalanine control. Am J Clin Nutr 1992; 55(5):997-1004.
Greeves LG, Carson DJ, Magee A, Patterson CC. Fractures and phenylketonuria. Acta Paediatr. 1997; 86(3):242-4.
Spear B. Adolescent growth and development. In: Vaughn IR. Adolescent nutrition: assessment and management. New York: Chapman & Hall; 1996.
Alvelar JA, Vial MR, Artaza CB, Guerreiro SR. Desarrollo puberal y edade óssea en niños con antecedentes de desnutrición calórico-proteica grave precoz. Rev Chilena Pediatr. 1994; 65(6): 311-6.
Setian N, Colli AS, Marcondes E. Adolescência. São Paulo: Sarvier; 1979. Monografias Médicas: Série Pediatria; v.11.
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