Tetrahydrobiopterin for patients with phenylketonuria

Lancet

Volumn 370, Issue 9586, 2007, Pages 462-463

  Pey, Angel L ^a   Martinez, Aurora ^a  

^a UNIVERSITY OF BERGEN   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; SAPROPTERIN; TETRAHYDROBIOPTERIN;

AMINO ACID BLOOD LEVEL; ARTICLE; DIET; GENE MUTATION; HUMAN; LONG TERM CARE; METABOLIC DISORDER; PHENYLKETONURIA; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SHORT COURSE THERAPY; THERMODYNAMICS;

EID: 34547665235     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(07)61209-4     Document Type: Note

References (13)

1. Scriver C., and Kaufman S. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Scriver C., Beaudet A., Valle D., and Sly W. (Eds). The metabolic and molecular bases of inherited disease. 8th edn. (2001), McGraw-Hill, New York 1667-1724
2. Levy H., Milanowski A., Chakrapani A., and for the Sapropterin Research Group. 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 (2007) 504-510
3. Kure S., Hou D., Ohura T., et al. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr 135 (1999) 375-378
4. Blau N., and Erlandsen H. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab 82 (2004) 101-111
5. m): relevance to genetic disease and polymorphisms. Am J Clin Nutr 75 (2002) 616-658
6. Mitnaul L., and Shiman R. Coordinate regulation of tetrahydrobiopterin turnover and phenylalanine hydroxylase activity in rat liver cells. Proc Natl Acad Sci USA 92 (1995) 885-889
7. Pey A., Thórólfsson M., Teigen K., Ugarte M., and Martinez A. Thermodynamic characterization of the binding of tetrahydropterins to phenylalanine hydroxylase. J Am Chem Soc 126 (2004) 13670-13678
8. Aguado C., Perez B., Ugarte M., and Desviat L. Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells. FEBS Lett 580 (2006) 1697-1701
9. Teigen K., and Martinez A. Probing cofactor specificity in phenylalanine hydroxylase by molecular dynamics simulations. J Biomol Struct Dyn 20 (2003) 733-740
10. Erlandsen H., Pey A., Gamez A., et al. Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proc Natl Acad Sci USA 101 (2004) 16903-16908
11. Thöny B., Ding Z., and Martinez A. Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia. FEBS Lett 577 (2004) 507-511
12. Kure S., Sato K., Fujii K., et al. Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab 83 (2004) 150-156
13. Pey A., and 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 86 suppl 1 (2005) S43-S53