Tetrahydrobiopterin responsiveness in phenylketonuria: Prediction with the 48-hour loading test and genotype

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Anjema, Karen ^a   Van Rijn, Margreet ^a   Hofstede, Floris C ^b   Bosch, Annet M ^c   Hollak, Carla Em ^c   Rubio Gozalbo, Estela ^d   De Vries, Maaike C ^e   Janssen, Mirian Ch ^e   Boelen, Carolien Ca ^f   Burgerhof, Johannes Gm ^a   Blau, Nenad ^g,h   Heiner Fokkema, M Rebecca ^a   Van Spronsen, Francjan J ^a  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^g UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^h UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Genotype; Loading test; Pharmacological chaperone; Phenylketonuria; PKU; Sapropterin dihydrochloride; Tetrahydrobiopterin

Indexed keywords

PHENYLALANINE; SAPROPTERIN; BIOPTERIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; FEMALE; GENOTYPE; HETEROZYGOSITY; HUMAN; LOADING TEST; MAJOR CLINICAL STUDY; MALE; MUTATION; PHENYLKETONURIA; PREDICTIVE VALUE; PROTEIN INTAKE; SCHOOL CHILD; TREATMENT RESPONSE; ANALOGS AND DERIVATIVES; CLINICAL TRIAL; GENETICS; PHENYLKETONURIAS; YOUNG ADULT;

ADOLESCENT; ADULT; BIOPTERIN; CHILD; FEMALE; GENOTYPE; HUMANS; MALE; MUTATION; PHENYLKETONURIAS; YOUNG ADULT;

EID: 84880017885     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-103     Document Type: Article

References (42)

1. Phenylketonuria. Blau N, van Spronsen FJ, Levy HL, Lancet 2010 376 9750 1417 1427 10.1016/S0140-6736(10)60961-0 20971365
2. Challenges and pitfalls in the management of phenylketonuria. Feillet F, van Spronsen FJ, MacDonald A, Trefz FK, Demirkol M, Giovannini M, Belanger-Quintana A, Blau N, Pediatr 2010 126 2 333 341 10.1542/peds.2009-3584
3. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Waisbren SE, Noel K, Fahrbach K, Cella C, Frame D, Dorenbaum A, Levy H, Mol Genet Metab 2007 92 1-2 63 70 17591452 (Pubitemid 47361886)
4. Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: A start toward standardized outcome measurement across development. van Spronsen FJ, Huijbregts SC, Bosch AM, Leuzzi V, Mol Genet Metab 2011 104 Suppl 45 S51 22018724
5. How practical are recommendations for dietary control in phenylketonuria? Walter JH, White FJ, Hall SK, MacDonald A, Rylance G, Boneh A, Francis DE, Shortland GJ, Schmidt M, Vail A, Lancet 2002 360 9326 55 57 10.1016/S0140- 6736(02)09334-0 12114043 (Pubitemid 34756494)
6. Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo. Gersting SW, Lagler FB, Eichinger A, Kemter KF, Danecka MK, Messing DD, Staudigl M, Domdey KA, Zsifkovits C, Fingerhut R, Glossmann H, Roscher AA, Muntau AC, Hum Mol Genet 2010 19 10 2039 2049 10.1093/hmg/ddq085 20179079
7. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. Muntau AC, Roschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff CP, Roscher AA, N Engl J Med 2002 347 26 2122 2132 10.1056/NEJMoa021654 12501224 (Pubitemid 36015124)
8. Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria. Trefz FK, Scheible D, Gotz H, Frauendienst-Egger G, J Inherit Metab Dis 2009 32 1 22 26 10.1007/s10545-008-0940-8 18956252
9. Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment. Levy H, Burton B, Cederbaum S, Scriver C, Mol Genet Metab 2007 92 4 287 291 10.1016/j.ymgme.2007.09.017 18036498 (Pubitemid 350117721)
10. Sapropterin Dihydrochloride, Kuvan®, Summary of Product Characteristics http://www.ema.europa.eu/ema/index.jsp?curl=pages/medicines/ human/medicines/000943/human-med-000880.jsp&mid=WC0b01ac058001d124 23704574
11. Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Blau N, Belanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen FJ, Mol Genet Metab 2009 96 4 158 163 10.1016/j.ymgme.2009.01.002 19208488
12. START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients. Utz JR, Lorentz CP, Markowitz D, Rudser KD, Diethelm-Okita B, Erickson D, Whitley CB, Mol Genet Metab 2012 105 2 193 197 10.1016/j.ymgme.2011.10.014 22112818
13. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Zurfluh MR, Zschocke J, Lindner M, Feillet F, Chery C, Burlina A, Stevens RC, Thony B, Blau N, Hum Mutat 2008 29 1 167 175 10.1002/humu.20637 17935162
14. Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. Karacic I, Meili D, Sarnavka V, Heintz C, Thony B, Ramadza DP, Fumic K, Mardesic D, Baric I, Blau N, Mol Genet Metab 2009 97 3 165 171 10.1016/j.ymgme.2009.03. 009 19394257
15. Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. Dobrowolski SF, Heintz C, Miller T, Ellingson C, Ellingson C, Ozer I, Gokcay G, Baykal T, Thony B, Demirkol M, Blau N, Mol Genet Metab 2011 102 2 116 121 10.1016/j.ymgme.2010.11.158 21147011
16. Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. Shintaku H, Kure S, Ohura T, Okano Y, Ohwada M, Sugiyama N, Sakura N, Yoshida I, Yoshino M, Matsubara Y, Suzuki K, Aoki K, Kitagawa T, Pediatr Res 2004 55 3 425 430 10.1203/01.PDR.0000111283.91564.7E 14681498 (Pubitemid 38240820)
17. Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy. Lambruschini N, Perez-Duenas B, Vilaseca MA, Mas A, Artuch R, Gassio R, Gomez L, Gutierrez A, Campistol J, Mol Genet Metab 2005 86 Suppl 1 54 S60 16040265
18. Effect of BH(4) supplementation on phenylalanine tolerance. Burlina A, Blau N, J Inherit Metab Dis 2009 32 1 40 45 10.1007/s10545-008-0947-1 19067227
19. Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment. Trefz FK, Scheible D, Frauendienst-Egger G, J Inherit Metab Dis 2010 10.1007/s10545-010-9058-x
20. Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients. Dobrowolski SF, Pey AL, Koch R, Levy H, Ellingson CC, Naylor EW, Martinez A, J Inherit Metab Dis 2009 32 1 10 21 10.1007/s10545-008-0942-6 18937047
21. Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria. Hennermann JB, Buhrer C, Blau N, Vetter B, Monch E, Mol Genet Metab 2005 86 Suppl 1 86 S90 16051511
22. Tetrahydrobiopterin therapy for hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. When and how? Baldellou Vazquez A, Salazar Garcia-Blanco MI, Ruiz-Echarri Zalaya MP, Campos Calleja C, Ruiz Desviat L, Ugarte Perez M, An Pediatr (Barc) 2006 64 2 146 152 10.1157/13084174
23. Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin. Gassio R, Vilaseca MA, Lambruschini N, Boix C, Fuste ME, Campistol J, Mol Genet Metab 2010 99 Suppl 1 75 S78 20123475
24. BH4-sensitive hyperphenylalaninemia: new case and review of literature. Lucke T, Illsinger S, Aulehla-Scholz C, Sander J, Das AM, Pediatr Neurol 2003 28 3 228 230 10.1016/S0887-8994(02)00516-7 12770680 (Pubitemid 36593437)
25. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates. Spaapen LJ, Bakker JA, Velter C, Loots W, Rubio-Gozalbo ME, Forget PP, Dorland L, De Koning TJ, Poll-The BT, van Amstel HK P, Bekhof J, Blau N, Duran M, J Inherit Metab Dis 2001 24 3 352 358 10.1023/A:1010596317296 11486900 (Pubitemid 32677515)
26. Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria. Quirk ME, Dobrowolski SF, Nelson BE, Coffee B, Singh RH, Mol Genet Metab 2012 107 1-2 31 36 22841515
27. Long-term treatment with tetrahydrobiopterin in phenylketonuria: Treatment strategies and prediction of long-term responders. Hennermann JB, Roloff S, Gebauer C, Vetter B, von Arnim-Baas A, Monch E, Mol Genet Metab 2012 107 3 294 301 10.1016/j.ymgme.2012.09.021 23062575
28. Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life. Ziesch B, Weigel J, Thiele A, Mutze U, Rohde C, Ceglarek U, Thiery J, Kiess W, Beblo S, J Inherit Metab Dis 2012 35 6 983 992 10.1007/s10545-012-9458-1 22391997
29. Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria. Leuret O, Barth M, Kuster A, Eyer D, de Parscau L, Odent S, Gilbert-Dussardier B, Feillet F, Labarthe F, J Inherit Metab Dis 2012 35 6 975 981 10.1007/s10545-012-9464-3 22388642
30. Phenylketonuria: a 21st century perspective. van Spronsen FJ, Nat Rev Endocrinol 2010 6 9 509 514 10.1038/nrendo.2010.125 20720592
31. Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study. Fiege B, Bonafe L, Ballhausen D, Baumgartner M, Thony B, Meili D, Fiori L, Giovannini M, Blau N, Mol Genet Metab 2005 86 Suppl 1 91 S95 16290003
32. The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration. Anjema K, Venema G, Hofstede FC, Carbasius Weber EC, Bosch AM, Ter Horst NM, Hollak CE, Jonkers CF, Rubio-Gozalbo ME, Van der Ploeg EM, De Vries MC, Janssen-Regelink RG, Janssen MC, Zweers-van Essen H, Boelen CC, der Herberg V, Van de Wetering NA, Heiner-Fokkema MR, Van Rijn M, Van Spronsen FJ, Mol Genet Metab 2011 104 Suppl 60 S63 21996137
33. Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience. Mitchell JJ, Wilcken B, Alexander I, Ellaway C, O'Grady H, Wiley V, Earl J, Christodoulou J, Mol Genet Metab 2005 86 Suppl 1 81 S85 16091307
34. Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation. Nielsen JB, Nielsen KE, Guttler F, J Inherit Metab Dis 2010 33 1 9 16 10.1007/s10545-009-9002-0 20063067
35. Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria. Singh RH, Quirk ME, Mol Genet Metab 2011 104 4 485 491 10.1016/j.ymgme.2011.09.009 21986447
36. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Blau N, Erlandsen H, Mol Genet Metab 2004 82 2 101 111 10.1016/j.ymgme.2004.03.006 15171997 (Pubitemid 38692547)
37. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art. Spaapen LJ, Rubio-Gozalbo ME, Mol Genet Metab 2003 78 2 93 99 10.1016/S1096-7192(02)00229-9 12618080 (Pubitemid 36279623)
38. Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients. Sterl E, Paul K, Paschke E, Zschocke J, Brunner-Krainz M, Windisch E, Konstantopoulou V, Moslinger D, Karall D, Scholl-Burgi S, Sperl W, Lagler F, Plecko B, J Inherit Metab Dis 2013 36 1 7 13 10.1007/s10545-012- 9485-y 22526846
39. Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. Trefz FK, Scheible D, Frauendienst-Egger G, Korall H, Blau N, Mol Genet Metab 2005 86 Suppl 1 75 S80 16242984
40. Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin. Belanger-Quintana A, Garcia MJ, Castro M, Desviat LR, Perez B, Mejia B, Ugarte M, Martinez-Pardo M, Mol Genet Metab 2005 86 Suppl 1 61 S66 16165389
41. Influence of protein composition and hydrolysis method on intestinal absorption of protein in man. Keohane PP, Grimble GK, Brown B, Spiller RC, Silk DB, Gut 1985 26 9 907 913 10.1136/gut.26.9.907 4029718 (Pubitemid 15229641)
42. Plasma amino acid response to ingestion of L-amino acids and whole protein. Gropper SS, Gropper DM, Acosta PB, J Pediatr Gastroenterol Nutr 1993 2 143 150 (Pubitemid 23063026)