메뉴 건너뛰기




Volumn 17, Issue 1, 2014, Pages 61-68

Advances in the nutritional and pharmacological management of phenylketonuria

Author keywords

Bone biomechanical performance; Glycomacropeptide; Large neutral amino acids; Phenylketonuria; Tetrahydrobiopterin

Indexed keywords

AMINO ACID; CHAPERONE; GLYCOPROTEIN; GUANOSINE PHOSPHATE; PHENYLALANINE; TETRAHYDROBIOPTERIN;

EID: 84891042377     PISSN: 13631950     EISSN: 14736519     Source Type: Journal    
DOI: 10.1097/MCO.0000000000000002     Document Type: Review
Times cited : (34)

References (41)
  • 1
    • 84881349966 scopus 로고    scopus 로고
    • Newborn screening 50 years later: Access issues faced by adults with PKU
    • Berry SA, Brown C, Grant M, et al. Newborn screening 50 years later: access issues faced by adults with PKU. Genet Med 2013; 15: 591-599. This review summarizes the prevalence of PKU and individual patient, social and economic factors preventing more than 70% of adults PKU patients in the United States from accessing treatment.
    • (2013) Genet Med , vol.15 , pp. 591-599
    • Berry, S.A.1    Brown, C.2    Grant, M.3
  • 2
    • 84875353256 scopus 로고    scopus 로고
    • Phenylalanine hydroxylase: Function, structure, and regulation
    • Flydal MI, Martinez A. Phenylalanine hydroxylase: function, structure, and regulation. IUBMB Life 2013; 65: 341-349.
    • (2013) IUBMB Life , vol.65 , pp. 341-349
    • Flydal, M.I.1    Martinez, A.2
  • 3
    • 84884349887 scopus 로고    scopus 로고
    • Rockville, MD: Agency for Healthcare Research and Quality; Feb, AHRQ Publication No 12-EHC035-EF
    • Lindegren M, Krishnaswami S, Fonnesbeck C, et al. Adjuvant treatment for phenylketonuria (PKU). Comparative effectiveness review No. 56. Rockville, MD: Agency for Healthcare Research and Quality; Feb 2012; AHRQ Publication No 12-EHC035-EF. Systematic review of evidence on adjuvant treatment of PKU, including sapropterin dihydrochloride (BH4) and large neutral amino acid supplementation, conducted by the Vanderbilt Evidence-Based Practice Center under contract to the Agency for Healthcare Research and Quality and presented at the NIH Scientific Review of Evidence for PKU conference held February 2012.
    • (2012) Adjuvant Treatment for Phenylketonuria (PKU). Comparative Effectiveness Review No. 56
    • Lindegren, M.1    Krishnaswami, S.2    Fonnesbeck, C.3
  • 4
    • 84891032575 scopus 로고    scopus 로고
    • ACMG guideline for phenylalanine hydroxylase (PAH) deficiency: Diagnosis and management
    • In press
    • Vockley J, Andersson HC, Antshel KM, et al. ACMG guideline for phenylalanine hydroxylase (PAH) deficiency: diagnosis and management. Genet Med 2014; In press. Recommendations for the treatment of PKU based in part on a comparative effectiveness reviewconducted by the Vanderbilt Evidence-Based Practice Center under contract to the Agency for Healthcare Research and Quality and presented at the NIH Scientific Review of Evidence for PKU conference held February 2012.
    • (2014) Genet Med
    • Vockley, J.1    Andersson, H.C.2    Antshel, K.M.3
  • 5
    • 84866179926 scopus 로고    scopus 로고
    • Nutritional treatment for inborn errors of metabolism: Indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example
    • Camp KM, Lloyd-Puryear MA, Huntington KL. 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 2012; 107: 3-9.
    • (2012) Mol Genet Metab , vol.107 , pp. 3-9
    • Camp, K.M.1    Lloyd-Puryear, M.A.2    Huntington, K.L.3
  • 6
    • 84875256038 scopus 로고    scopus 로고
    • Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria
    • Hartnett C, Salvarinova-Zivkovic R, Yap-Todos E, et al. Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria. Mol Genet Metab 2013; 108: 255-258.
    • (2013) Mol Genet Metab , vol.108 , pp. 255-258
    • Hartnett, C.1    Salvarinova-Zivkovic, R.2    Yap-Todos, E.3
  • 7
    • 84864138755 scopus 로고    scopus 로고
    • Food products made with glycomacropeptide, a lowphenylalanine whey protein, provide a new alternative to amino acid-based medical foods for nutrition management of phenylketonuria
    • Van Calcar SC, Ney DM. Food products made with glycomacropeptide, a lowphenylalanine whey protein, provide a new alternative to amino acid-based medical foods for nutrition management of phenylketonuria. J Acad Nutr Diet 2012; 112: 1201-1210. Review of evidence and future research needs for utilization of GMP medical foods in the PKU diet.
    • (2012) J Acad Nutr Diet , vol.112 , pp. 1201-1210
    • Van Calcar, S.C.1    Ney, D.M.2
  • 8
    • 84878502615 scopus 로고    scopus 로고
    • White matter integrity and executive abilities in individuals with phenylketonuria
    • Antenor-Dorsey JA, Hershey T, Rutlin J, et al. White matter integrity and executive abilities in individuals with phenylketonuria. Mol Genet Metab 2013; 109: 125-131.
    • (2013) Mol Genet Metab , vol.109 , pp. 125-131
    • Antenor-Dorsey, J.A.1    Hershey, T.2    Rutlin, J.3
  • 9
    • 84858702108 scopus 로고    scopus 로고
    • Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients
    • de Groot MJ, Hoeksma M, van Rijn M, et al. Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients. Mol Genet Metab 2012; 105: 566-570.
    • (2012) Mol Genet Metab , vol.105 , pp. 566-570
    • De Groot, M.J.1    Hoeksma, M.2    Van Rijn, M.3
  • 10
    • 84884350808 scopus 로고    scopus 로고
    • Chronic kidney disease in adolescent and adult patients with phenylketonuria
    • Hennermann JB, Roloff S, Gellermann J, et al. Chronic kidney disease in adolescent and adult patients with phenylketonuria. J Inherit Metab Dis 2013; 36: 747-756.
    • (2013) J Inherit Metab Dis , vol.36 , pp. 747-756
    • Hennermann, J.B.1    Roloff, S.2    Gellermann, J.3
  • 11
    • 0034490342 scopus 로고    scopus 로고
    • Biological activities of bovine glycomacropeptide
    • Brody EP. Biological activities of bovine glycomacropeptide. Br J Nutr 2000; 84 (Suppl 1):S39-S46. (Pubitemid 32106828)
    • (2000) British Journal of Nutrition , vol.84 , Issue.SUPPL. 1
    • Brody, E.P.1
  • 12
    • 59749087136 scopus 로고    scopus 로고
    • Nutritional management of PKU with glycomacropeptide from cheese whey
    • Ney DM, Gleason ST, van Calcar SC, et al. Nutritional management of PKU with glycomacropeptide from cheese whey. J Inherit Metab Dis 2009; 32: 32-39.
    • (2009) J Inherit Metab Dis , vol.32 , pp. 32-39
    • Ney, D.M.1    Gleason, S.T.2    Van Calcar, S.C.3
  • 13
    • 63649146562 scopus 로고    scopus 로고
    • Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids
    • Van Calcar SC, Macleod EL, Gleason ST, et al. Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids. Am J Clin Nutr 2009; 89: 1068-1077.
    • (2009) Am J Clin Nutr , vol.89 , pp. 1068-1077
    • Van Calcar, S.C.1    Macleod, E.L.2    Gleason, S.T.3
  • 14
    • 84859461332 scopus 로고    scopus 로고
    • Glycomacropeptide, a lowphenylalanine protein isolated from cheese whey, supports growth and attenuates metabolic stress in the murine model of phenylketonuria
    • Solverson P, Murali SG, Brinkman AS, et al. Glycomacropeptide, a lowphenylalanine protein isolated from cheese whey, supports growth and attenuates metabolic stress in the murine model of phenylketonuria. Am J Physiol Endocrinol Metab 2012; 302:E885-E895.
    • (2012) Am J Physiol Endocrinol Metab , vol.302
    • Solverson, P.1    Murali, S.G.2    Brinkman, A.S.3
  • 15
    • 84874673304 scopus 로고    scopus 로고
    • Ameliorating effects of casein glycomacropeptide on obesity induced by high-fat diet in male Sprague-Dawley rats
    • Xu SP, Mao XY, Cheng X, Chen B. Ameliorating effects of casein glycomacropeptide on obesity induced by high-fat diet in male Sprague-Dawley rats. Food Chem Toxicol 2013; 56: 1-7.
    • (2013) Food Chem Toxicol , vol.56 , pp. 1-7
    • Xu, S.P.1    Mao, X.Y.2    Cheng, X.3    Chen, B.4
  • 16
    • 84866150573 scopus 로고    scopus 로고
    • High prevalence of overweight and obesity in females with phenylketonuria
    • Burrage LC, McConnell J, Haesler R, et al. High prevalence of overweight and obesity in females with phenylketonuria. Mol Genet Metab 2012; 107: 43-48.
    • (2012) Mol Genet Metab , vol.107 , pp. 43-48
    • Burrage, L.C.1    McConnell, J.2    Haesler, R.3
  • 17
    • 0035007138 scopus 로고    scopus 로고
    • The digestion rate of protein is an independent regulating factor of postprandial protein retention
    • Dangin M, Boirie Y, Garcia-Rodenas C, et al. The digestion rate of protein is an independent regulating factor of postprandial protein retention. Am J Physiol Endocrinol Metab 2001; 280:E340-E348.
    • (2001) Am J Physiol Endocrinol Metab , vol.280
    • Dangin, M.1    Boirie, Y.2    Garcia-Rodenas, C.3
  • 18
    • 77954229363 scopus 로고    scopus 로고
    • Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria
    • Macleod EL, Clayton MK, van Calcar SC, Ney DM. Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria. Mol Genet Metab 2011; 100: 303-308.
    • (2011) Mol Genet Metab , vol.100 , pp. 303-308
    • Macleod, E.L.1    Clayton, M.K.2    Van Calcar, S.C.3    Ney, D.M.4
  • 21
    • 0026764376 scopus 로고
    • Bone mineral status in children with phenylketonuria: Relationship to nutritional intake and phenylalanine control
    • 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: 997-1004.
    • (1992) Am J Clin Nutr , vol.55 , pp. 997-1004
    • McMurry, M.P.1    Chan, G.M.2    Leonard, C.O.3    Ernst, S.L.4
  • 22
    • 84874018848 scopus 로고    scopus 로고
    • Risk factors for developing mineral bone disease in phenylketonuric patients
    • Miras A, Boveda MD, Leis MR, et al. Risk factors for developing mineral bone disease in phenylketonuric patients. Mol Genet Metab 2013; 108: 149-154.
    • (2013) Mol Genet Metab , vol.108 , pp. 149-154
    • Miras, A.1    Boveda, M.D.2    Leis, M.R.3
  • 23
    • 84866509174 scopus 로고    scopus 로고
    • Low bone strength is a manifestation of phenylketonuria in mice and is attenuated by a glycomacropeptide diet
    • Solverson P, Murali SG, Litscher SJ, et al. Low bone strength is a manifestation of phenylketonuria in mice and is attenuated by a glycomacropeptide diet. PloS One 2012; 7:e45165. This study characterizes the PKU bone phenotype and the contributions of genotype and dietary protein source to the bone phenotype in Pahenu2 mice.
    • (2012) PloS One , vol.7
    • Solverson, P.1    Murali, S.G.2    Litscher, S.J.3
  • 24
    • 0035313653 scopus 로고    scopus 로고
    • From Wolff's law to the Utah paradigm: Insights about bone physiology and its clinical applications
    • DOI 10.1002/ar.1049
    • Frost HM. From Wolff's law to the Utah paradigm: insights about bone physiology and its clinical applications. Anat Rec 2001; 262: 398-419. (Pubitemid 32250965)
    • (2001) Anatomical Record , vol.262 , Issue.4 , pp. 398-419
    • Frost, H.M.1
  • 25
    • 84890988225 scopus 로고    scopus 로고
    • Adaptive and injury response of bone to mechanical loading
    • McBride SH, Silva MJ. Adaptive and injury response of bone to mechanical loading. Bonekey Osteovision 2012; 1:192.
    • (2012) Bonekey Osteovision , vol.1 , pp. 192
    • McBride, S.H.1    Silva, M.J.2
  • 26
    • 76549123888 scopus 로고    scopus 로고
    • Collagen cross-links as a determinant of bone quality: A possible explanation for bone fragility in aging, osteoporosis, and diabetes mellitus
    • Saito M, Marumo K. Collagen cross-links as a determinant of bone quality: a possible explanation for bone fragility in aging, osteoporosis, and diabetes mellitus. Osteoporos Int 2010; 21: 195-214.
    • (2010) Osteoporos Int , vol.21 , pp. 195-214
    • Saito, M.1    Marumo, K.2
  • 27
    • 84873948364 scopus 로고    scopus 로고
    • Pharmacological inhibition of PPARgamma increases osteoblastogenesis and bone mass in male C57BL/6 mice
    • Duque G, Li W, Vidal C, et al. Pharmacological inhibition of PPARgamma increases osteoblastogenesis and bone mass in male C57BL/6 mice. J Bone Miner Res 2013; 28: 639-648.
    • (2013) J Bone Miner Res , vol.28 , pp. 639-648
    • Duque, G.1    Li, W.2    Vidal, C.3
  • 28
    • 0017699342 scopus 로고
    • Acid base status in dietary treatment of phenylketonuria
    • Manz F, Schmidt H, Scharer K, Bickel H. Acid-base status in dietary treatment of phenylketonuria. Pediatr Res 1977; 11 (10 Pt 2): 1084-1087. (Pubitemid 8228139)
    • (1977) Pediatric Research , vol.11 , Issue.10 , pp. 1084-1087
    • Manz, F.1    Schmidt, H.2    Schaerer, K.3    Bickel, H.4
  • 29
    • 79960698055 scopus 로고    scopus 로고
    • Diet-induced metabolic acidosis
    • Adeva MM, Souto G. Diet-induced metabolic acidosis. Clin Nutr 2011; 30: 416-421.
    • (2011) Clin Nutr , vol.30 , pp. 416-421
    • Adeva, M.M.1    Souto, G.2
  • 30
    • 0024401970 scopus 로고
    • Net calcium efflux from live bone during chronic metabolic, but not respiratory, acidosis
    • Bushinsky DA. Net calcium efflux from live bone during chronic metabolic, but not respiratory, acidosis. Am J Physiol 1989; 2565Pt2:F836-F842.
    • (1989) Am J Physiol , vol.2565 , Issue.PART 2
    • Bushinsky, D.A.1
  • 31
    • 84872053507 scopus 로고    scopus 로고
    • Effect of potassium citrate on bone density, microarchitecture, and fracture risk in healthy older adults without osteoporosis: A randomized controlled trial
    • Jehle S, Hulter HN, Krapf R. Effect of potassium citrate on bone density, microarchitecture, and fracture risk in healthy older adults without osteoporosis: a randomized controlled trial. J Clin Endocrinol Metab 2013; 98: 207-217.
    • (2013) J Clin Endocrinol Metab , vol.98 , pp. 207-217
    • Jehle, S.1    Hulter, H.N.2    Krapf, R.3
  • 32
    • 84884343104 scopus 로고    scopus 로고
    • Does the PKU diet contribute to impaired renal function?
    • Ney DM. Does the PKU diet contribute to impaired renal function? J Inherit Metab Dis 2013; 36: 903-904.
    • (2013) J Inherit Metab Dis , vol.36 , pp. 903-904
    • Ney, D.M.1
  • 33
    • 79952551959 scopus 로고    scopus 로고
    • Large neutral amino acids in the treatment of PKU: From theory to practice
    • van Spronsen FJ, de Groot MJ, Hoeksma M, et al. Large neutral amino acids in the treatment of PKU: from theory to practice. J Inherit Metab Dis 2010; 33: 671-676.
    • (2010) J Inherit Metab Dis , vol.33 , pp. 671-676
    • Van Spronsen, F.J.1    De Groot, M.J.2    Hoeksma, M.3
  • 34
    • 84877772598 scopus 로고    scopus 로고
    • Nonphysiological amino acid (NPAA) therapy targeting brain phenylalanine reduction: Pilot studies in PAH (ENU2) mice
    • Vogel KR, Arning E, Wasek BL, et al. Nonphysiological amino acid (NPAA) therapy targeting brain phenylalanine reduction: pilot studies in PAH (ENU2) mice. J Inherit Metab Dis 2013; 36: 513-523. Studies in Pahenu2 mice provide proof-of-principle for the use of nonphysiological amino acids to act as competitive inhibitors of brain amino acid transporters.
    • (2013) J Inherit Metab Dis , vol.36 , pp. 513-523
    • Vogel, K.R.1    Arning, E.2    Wasek, B.L.3
  • 35
    • 84876671171 scopus 로고    scopus 로고
    • Large neutral amino acid supplementation increases melatonin synthesis in phenylketonuria: A new biomarker
    • This study demonstrates that levels of melatonin in blood and urine are an accessible biomarker reflecting brain serotonin synthesis in patients with PKU
    • Yano S, Moseley K, Azen C. Large neutral amino acid supplementation increases melatonin synthesis in phenylketonuria: a new biomarker. J Pediatr 2012; 162: 999-1003. This study demonstrates that levels of melatonin in blood and urine are an accessible biomarker reflecting brain serotonin synthesis in patients with PKU.
    • (2012) J Pediatr , vol.162 , pp. 999-1003
    • Yano, S.1    Moseley, K.2    Azen, C.3
  • 37
    • 0029072351 scopus 로고
    • Nutritional value of essential amino acids in the treatment of adults with phenylketonuria
    • Dotremont H, Francois B, Diels M, Gillis P. Nutritional value of essential amino acids in the treatment of adults with phenylketonuria. J Inherit Metab Dis 1995; 18: 127-130.
    • (1995) J Inherit Metab Dis , vol.18 , pp. 127-130
    • Dotremont, H.1    Francois, B.2    Diels, M.3    Gillis, P.4
  • 39
    • 84879420029 scopus 로고    scopus 로고
    • Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria
    • [Epub ahead of print]
    • Heintz C, Cotton RG, Blau N. Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria. Hum Mutat 2013. [Epub ahead of print]. Detailed review of the phenylalanine hydroxylase system and the genetic, molecular, and metabolic basis for response to tetrahydrobiopterin therapy in PKU.
    • (2013) Hum Mutat
    • Heintz, C.1    Cotton, R.G.2    Blau, N.3
  • 40
    • 84878745685 scopus 로고    scopus 로고
    • Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study
    • Keil S, Anjema K, van Spronsen FJ, et al. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. Pediatrics 2013; 131:e1881-e1888.
    • (2013) Pediatrics , vol.131
    • Keil, S.1    Anjema, K.2    Van Spronsen, F.J.3
  • 41
    • 79958701858 scopus 로고    scopus 로고
    • The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response
    • Staudigl M, Gersting SW, Danecka MK, et al. The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response. Hum Mol Genet 2011; 20: 2628-2641.
    • (2011) Hum Mol Genet , vol.20 , pp. 2628-2641
    • Staudigl, M.1    Gersting, S.W.2    Danecka, M.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.