The effect of blood phenylalanine concentration on Kuvan™ response in phenylketonuria

Molecular Genetics and Metabolism

Volumn 102, Issue 4, 2011, Pages 407-412

  Elsas, Louis J ^a   Greto, Josephine ^a   Wierenga, Andrea ^b  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

Author keywords

Phenylketonuria; Response; Tetrahydrobiopterin treatment

Indexed keywords

PHENYLALANINE; SAPROPTERIN; TYROSINE;

ADOLESCENT; ADULT; ALLELE; AMINO ACID BLOOD LEVEL; ARTICLE; CHILD; CLINICAL ARTICLE; DIET RESTRICTION; DIET THERAPY; DISEASE SEVERITY; DOSE RESPONSE; DRUG DOSE COMPARISON; FEMALE; GENE FREQUENCY; GENOTYPE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PHASE 1 CLINICAL TRIAL; PHASE 3 CLINICAL TRIAL; PHENYLKETONURIA; PRIORITY JOURNAL; SCHOOL CHILD; TREATMENT OUTCOME; TREATMENT RESPONSE;

ADOLESCENT; ADULT; BIOPTERIN; CHILD; DOSE-RESPONSE RELATIONSHIP, DRUG; FEMALE; FOOD, FORMULATED; HUMANS; MALE; MUTATION, MISSENSE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PROSPECTIVE STUDIES; REPRODUCIBILITY OF RESULTS; YOUNG ADULT;

EID: 79952623974     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.12.003     Document Type: Article

References (40)

1. Donlon J., Levy H., Scriver C. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. Metabolic and molecular basis of inherited disease 2007, McGraw-Hill, (Chapter 77). C. Scriver, A. Beaudet, W. Sly, D. Valle (Eds.).
2. Koch R., Burton B., Hoganson G., Peterson R., Rhead W., Rouse B., Scott R., Wolff J., Stern A., Guttler F., Nelson M., de la Cruz F., Coldwell J., Erbe R., Geraghty M.T., Shear C., Thomas J., Azen C. Phenylketonuria in adulthood: a collaborative study. J. Inherit. Metab. Dis. 2002, 25:333-346.
3. Krause W., Halminski M., McDonald L., Dembure P., Salvo R., Friedes D., Elsas L. Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria. A model for the study of phenylalanine and brain function in man. J. Clin. Invest. 1985, 75:40-48.
4. Krause W., Epstein C., Averbook A., Dembure P., Elsas L. Phenylalanine alters the mean power frequency of electroencephalograms and plasma L-DOPA in treated patients with PKU. Pediatr. Res. 1986, 20:1112-1116.
5. Epstein C., Trotter J., Averbook A., Freeman S., Kutner M., Elsas L. EEG mean frequencies are sensitive indices of phenylalanine effects on normal brain. Electroencephalogr. Clin. Neurophysiol. 1989, 72:133-139.
6. Arnold G., Vladutiu C., Orlowski C., Blakley E., DeLua J. Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria. J. Inherit. Metab. Dis. 2004, 27:137-143.
7. Griffin R., Elsas L. Classic phenylketonuria: diagnosis through heterozygote detection. J. Pediatr. 1975, 88:512-517.
8. Eisensmith R., Martinez P., Kuzmin A., Gultsov A., Brown A., Singh R., Elsas L., Woo S. Molecular basis of phenylketonuria and correlation between genotype and phenotype in a heterogeneous Southeastern US population. Pediatrics 1996, 97:512-516.
9. Kaufman S. The structure of phenylalanine hydroxylation cofactor. Proc. Natl Acad. Sci. USA 1963, 50:1085-1093.
10. Milstein S., Kaufman S. Studies on the phenylalanine hydroxylase system in liver slices. J. Biol. Chem. 1975, 250:4777-4781.
11. Niederwieser A., Curtius H. Tetrahydrobiopterin deficiencies in hyperphenylalaninemia. Inherited diseases of amino acid metabolism 1985, 104-121. Georg Thieme, Stuttgart. H. Bickel, V. Wachel (Eds.).
12. Levy H., Burton B., Cederbaum S., Scriver C. Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH4) in phenylketonuria and its use in treatment. Mol. Genet. Metab. 2007, 92:287-291.
13. Blau N., Erlandsen H. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxlase deficiency. Mol. Genet. Metab. 2004, 82:101-111.
14. Stanford M., Veating G. Sapropterin. A review of its use in the treatment of primary hyperphenylalaninemia. Drugs 2009, 69(4):461-476.
15. Lee P., Treacy E., Crombez E., Wasserstein M., Waber L., Wolff J., Wendel V., Dorenbaum A., Bebchuk J., Christ-Schmidt H., Seashore M., Giovannini M., Burton B., Morris A. The Sapropterin Research Group, 2008. Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. Am. J. Med. Genet. A 2008, 146A:2851-2859.
16. Burnett J. Sapropterin dihydrochloride (Kuvan/Phenoptin) an orally active synthetic form of BH4 for the treatment of phenylketonuria. IDrugs 2007, 10:805-813.
17. Burton B., Grange D., Milanowski A., Vockley G., Feillet A., Crombez E., Abadie V., Harding C., Cederbaum S., Dobbelaere D., Smith A., Dorenbaum A. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): A phase II multicenter, open-label, screening study. J. Inherit. Metab. Dis. 2007, 30:700-707.
18. Bernegger C., Blau N. High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1919 patients observed from 1988-2002. Mol. Genet. Metab. 2002, 77:304-313.
19. Blau N., Bélanger-Quintana A., Demirkol M., Feillet F., Giovannini M., MacDonald A., Trefz F., van Spronsen F. Optimizing the use of sapropterin (BH4) in the management of phenylketonuria. Mol. Genet. Metab. 2009, 96:158-163.
20. Trefz F., Burton B., Longo N., Casanova M., Gruskin D., Dorenbaum A., Kakkis E., Crombez E., Grange D., Harmatz P., Lipson M., Milanowski A., Randolph L., Vockley J., Whitley C., Wolf J., Bebchuk J., Christ-Schmidt H., Hennerman J. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: A phase II randomized, double-blind, placebo controlled study. J. Pediatr. 2009, 154:700-707.
21. Burlina A., Blau N. Effect of BH4 Supplementation on phenylalanine tolerance. J. Inherit. Metab. Dis. 2009, 32:40-45.
22. Levy H., Milanowski A., Chakrapani A., Cleary M., Lee P., Trefz F., Whitley C., Feillet F., Feigenbaum A., Bebchuk J., Christ-Schmidt H., Dorenbaum A. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin; 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: A phase III randomized placebo-controlled study. Lancet 2007, 370:504-510.
23. Kure S., Hou D., Ohura T., Iwamoto H., Suzuki S., Sugiyama N., Sakamoto O., Fujii K., Matsubara Y., Narisawa K. Tetrahydrobiopterin-responsive phenylalanine hydroxlase deficiency. J. Pediatr. 1999, 135:375-378.
24. Matalon R., Michals-Matalon K., Koch R., Grady J., Tyring S., Stevens R. Response of patients with phenylketonuria in the US to tetrahydrobiopterin. Mol. Genet. Metab. 2005, 86(1):17-21.
25. Blau N., van Spronsen F.J., Levy H. Phenylketonuria. Lancet 2010, 376:1417-1427.
26. Pey A., Pérez B., Desviat L., Martinez M., Aquado C., Erlandsen H., Gaméz A., Stevens R., Thórólfsson M., Ugarte M., Martinez A. Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuric mutations. Hum. Mutat. 2004, 24:388-399.
27. Zurflüh M., Zschocke J., Linder M., Feillet F., Cherry C., Burlina A., Stevens R., Thony B., Blau N. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum. Mutat. 2008, 29(1):167-175.
28. Erlandsen H., Pey A., Gaméz A., Pérez B., Desviat L., Aguado C., Koch R., Surendran S., Tyring S., Matalon R., Scriver C., Ugarte M., Martinez A., Stevens R. Corrections of kinetic and stability defects by tetrahydrobiopterin in phenylketonuric patients with certain phenylalanine hydroxylase mutations. PNAS 2004, 101:16903-16908.
29. (PAHdb) http://www.pahdb.mcgill.ca.
30. Vernon H., Koerner C., Johnson M., Bergner A., Hamosh A. Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria. Mol. Genet. Metab. 2010, 100:229-233.
31. Erlandsen H., Stevens R. Structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninemia and phenylketonuria. J. Inherit. Metab. Dis. 2001, 24:213-230.
32. Dobrowolski S., Pey A., Koch R., Levy H., Ellingson C., Naylor E., Martinez A. Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninemic patients. J. Inherit. Metab. Dis. 2009, 32:10-21.
33. Burton B., Bausell H., Katz R., LaDuca H., Sullivan C. Saproterin therapy increases stability of blood phenylalanine levels in patients with BH?-responsive phenylketonuria (PKU). Mol. Genet. Metab. 2010, 101:110-114.
34. Pey A., Martinez A. The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: An isothermal titration calorimetry study. Mol. Genet. Metab. 2005, 86:43-53.
35. Lindner M., Haas D., Zschocke J., Burgard P. Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype. Mol. Genet. Metab. 2001, 73:104-106.
36. Gersting S., Kempter K., Staudigl M., Messing D., Danecka M., Lagler F., Sommerhoff C., Roscher A., Muntau A. Loss of function in Phenylketonuria is caused by impaired molecular motions and conformational instability. Am. J. Hum. Genet. 2008, 83:5-17.
37. Pey A., Ying M., Cremades N., Velazquez-Campoy A., Scherer T., Thony B., Sancho J., Martinez A. Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria. J. Clin. Invest. 2008, 118:2858-2867.
38. Feillet F., von Spronsen F.J., Macdonald A., Trefz F., Demirkol M., Giovannini M., Belanger-Quintana A., Blay N. Challenges and pitfalls in the management of phenylketonuria. Pediatrics 2010, 126:333-341.
39. von Spronsen F.J., Enns G. Future treatment strategies in phenylketonuria. Mol. Genet. Metab. 2010, 99:S90-S95.
40. Munteau A., Gersting S. Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism. J. Inherit. Metab Dis 2010, 33(6):649-658.