Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria

Molecular Genetics and Metabolism

Volumn 100, Issue 3, 2010, Pages 229-233

  Vernon, H J ^a   Koerner, C B ^a   Johnson, M R ^a   Bergner, A ^a   Hamosh, A ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Phenylketonuria; Sapropterin dihydrochloride; Tetrahydrobiopterin

Indexed keywords

PHENYLALANINE; SAPROPTERIN;

ADOLESCENT; ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; BEHAVIOR; CHILD; CLINICAL ARTICLE; CLINICAL TRIAL; DIET RESTRICTION; DIETARY INTAKE; DRUG DOSE ESCALATION; DRUG DOSE INCREASE; DRUG EFFICACY; DRUG RESPONSE; FEMALE; HUMAN; HYPERPHENYLALANINEMIA; MALE; PATIENT COMPLIANCE; PHENYLKETONURIA; PRIORITY JOURNAL; PROTEIN INTAKE;

ADOLESCENT; ADULT; BIOPTERIN; CHILD; CHILD, PRESCHOOL; DIET, PROTEIN-RESTRICTED; FEMALE; HUMANS; MALE; MIDDLE AGED; PHENYLALANINE; PHENYLKETONURIAS; YOUNG ADULT;

EID: 77953028870     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.03.022     Document Type: Article

References (15)

1. C.R. Scriver, S. Kaufman, Hyperphenylalaninemia: phenylalanine hydroxylase deficiency, In: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.); B. Childs, K.W. Kinzler, B. Vogelstein (Assoc. eds.), The Metabolic and Molecular Bases of Inherited Disease, eighth ed., McGraw-Hill, New York, 2001, pp. 1667-1709.
2. Sarkissian C.N., Gámez A., and Scriver C.R. What we know that could influence future treatment of phenylketonuria. J. Inherit. Metab. Dis. 32 1 (2009) 3-9
3. National Institutes of Health Consensus Development Conference Statement, Phenylketonuria: screening and management, October 16-18, 2000, Pediatrics 108 (2001) 972-982.
4. VanZutphen K.H., Packman W., Sporri L., Needham M.C., Morgan C., Weisiger K., and Packman S. Executive functioning in children and adolescents with phenylketonuria. Clin. Genet. 72 1 (2007) 13-18
5. Koch R., Burton B., Hoganson G., Peterson R., Rhead W., Rouse B., Scott R., Wolff J., Stern A.M., Guttler F., Nelson M., de la Cruz F., Coldwell J., Erbe R., Geraghty M.T., Shear C., Thomas J., and Azen C. Phenylketonuria in adulthood: a collaborative study. J. Inherit. Metab. Dis. 25 5 (2002) 333-346
6. Levy H.L., and Waisbren S.E. PKU in adolescents: rationale and psychosocial factors in diet continuation. Acta Paediatr. 407 (1994) 92-97
7. Levy H.L., and Ghavami M. Maternal phenylketonuria: a metabolic teratogen. Teratology 53 3 (1996) 176-184
8. Levy H.L., Milanowski A., Chakrapani A., Cleary M., Lee P., Trefz F.K., Whitley C.B., Feillet F., Feigenbaum A.S., Bebchuk J.D., Christ-Schmidt H., and Dorenbaum A. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet 370 9586 (2007) 504-510
9. Burton B.K., Grange D.K., Milanowski A., Vockley G., Feillet F., Crombez E.A., Abadie V., Harding C.O., Cederbaum S., Dobbelaere D., Smith A., and Dorenbaum A. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study. J. Inherit. Metab. Dis. 30 5 (2007) 700-707
10. Blau N., Bélanger-Quintana A., Demirkol M., Feillet F., Giovannini M., MacDonald A., Trefz F.K., and van Spronsen F.J. Optimizing the use of sapropterin (BH4) in the management of phenylketonuria. Mol. Genet. Metab. 96 (2009) 158-163
11. Karacić I., Meili D., Sarnavka V., Heintz C., Thöny B., Ramadza D.P., Fumić K., Mardesić D., Barić I., and Blau N. Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in croatian patients with phenylalanine hydroxylase (PAH) deficiency. Mol. Genet. Metab. 97 3 (2009) 165-171
12. Blau N., and Erlandsen H. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol. Genet. Metab. 82 2 (2004) 101-111
13. Trefz F.K., Burton B.K., Longo N., Casanova M.M., Gruskin D.J., Dorenbaum A., Kakkis E.D., Crombez E.A., Grange D.K., Harmatz P., Lipson M.H., Milanowski A., Randolph L.M., Vockley J., Whitley C.B., Wolff J.A., Bebchuk J., Christ-Schmidt H., Hennermann J.B., and Sapropterin Study Group. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J. Pediatr. 154 5 (2009) 700-707
14. Merrick J., Aspler S., and Schwarz G. Phenylalanine-restricted diet should be life long. A case report on long-term follow-up of an adolescent with untreated phenylketonuria. Int. J. Adolesc. Med. Health 15 2 (2003) 165-168
15. Lee P.J., Amos A., Robertson L., Fitzgerald B., Hoskin R., Lilburn M., Weetch E., and Murphy G. Adults with late diagnosed PKU and severe challenging behavior: a randomized placebo-controlled trial of a phenylalanine restricted diet. J. Neurol. Neurosurg. Psychiatry 80 (2009) 631-635