Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria

Journal of Inherited Metabolic Disease

Volumn 32, Issue 1, 2009, Pages 22-26

  Trefz, F K ^a   Scheible, D ^a   Gotz H ^b   Frauendienst Egger, G ^a  

^a Kreiskliniken Reutlingen   (Germany)

^b Software Service GmbH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; SAPROPTERIN; TETRAHYDROBIOPTERIN;

AMINO ACID BLOOD LEVEL; CONFERENCE PAPER; DRUG MECHANISM; DRUG RESPONSE; ENZYME ACTIVE SITE; GENE DOSAGE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LOADING DRUG DOSE; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NULL ALLELE; OUTCOME ASSESSMENT; PHARMACOGENOMICS; PHENYLKETONURIA; SINGLE DRUG DOSE;

BIOPTERIN; CATALYTIC DOMAIN; DNA MUTATIONAL ANALYSIS; DRUG RESISTANCE; GENOTYPE; HUMANS; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POINT MUTATION; PROTEIN MULTIMERIZATION; PROTEIN STRUCTURE, TERTIARY; RETROSPECTIVE STUDIES; TREATMENT OUTCOME;

EID: 59749092734     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0940-8     Document Type: Conference Paper

References (31)

1. Blau N, Bernegger C, Trefz FK (Mar 2003) Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene. Eur J Pediatr 162(3): 196.
2. Baldellou-Vázquez A, Salazar García-Blanco MI, Ruiz-Echarri Zalaya MP, et al (2006) Tetrahydrobiopterin therapy for hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. When and how? An Pediatr (Barc) 64: 146-152. doi: 10.1157/13084174.
3. 4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. Mol Genet Metab 77(3): 260-266. doi: 10.1016/S1096-7192(02)00166-X.
4. Desviat LR, Pérez B, Bèlanger-Quintana A, et al (2004) Tetrahydrobiopterin responsiveness: Results of the BH 4 loading test in 31 Spanish PKU patients and correlation with their genotype. Mol Genet Metab 83: 157-162. doi: 10.1016/j.ymgme.2004.06.007.
5. Dipple KM, McCabe ER (2000) Modifier genes convert "simple" Mendelian disorders to complex traits. Mol Genet Metab 71: 43-50. doi: 10.1006/mgme.2000.3052.
6. Erlandsen H, Pey AL, Gámez A, et al (2004) Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proc Natl Acad Sci U S A 101(48): 16903-16908. doi: 10.1073/pnas.0407256101.
7. Fiege B, Ballhausen D, Kierat L, et al (2004) Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration. Mol Genet Metab 81(1): 45-51. doi: 10.1016/j.ymgme.2003.09.014.
8. Fiege B, Bonafé L, Ballhausen D, et al (2005) Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: A pilot study. Mol Genet Metab 86(Supplement 1): S91-95. doi: 10.1016/j.ymgme.2005.09.014.
9. Hennermann JB, Bührer C, Blau N, et al (2005) Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria. Mol Genet Metab 86(Supplement 1): S86-90. doi: 10.1016/j.ymgme.2005.05.013.
10. Kaufman S (1976) Phenylketonuria: Biochemical mechanisms. Adv Neurochem 2: 1-132.
11. Kure S, Hou DC, Ohura T, et al (1999) Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr 135(3): 375-378. doi: 10.1016/S0022-3476(99)70138-1.
12. Lässker U, Zschocke J, Blau N, et al (2002) Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings. J Inherit Metab Dis 25(1): 65-70. doi: 10.1023/A:1015194002487.
13. Leandro J, Nascimento C, de Almeida IT, et al (2006) Co-expression of different subunits of human phenylalanine hydroxylase: Evidence of negative interallelic complementation. Biochim Biophys Acta 1762: 544-550.
14. Lee DH, Koo SK, Lee KS, et al (2004) The molecular basis of phenylketonuria in Koreans. J Hum Genet 49(11): 617-621. doi: 10.1007/ s10038-004-0197-5.
15. Leuzzi V, Carducci C, Carducci C, et al (2006) The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency. J Inherit Metab Dis 29: 38-46. doi: 10.1007/s10545-006-0096-3.
16. 4) for reduction of phenylalanine concentration in patients with phenylketonuria: A phase III randomised placebo-controlled study. Lancet 370: 504-510. doi: 10.1016/S0140-6736(07)61234-3.
17. 4) in phenylketonuria and its use in treatment. Mol Genet Metab 92: 287-291. doi: 10.1016/j.ymgme.2007.09.017.
18. Lindner M, Steinfeld R, Burgard P, et al (2003) Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency. Hum Mutat 21: 400. doi: 10.1002/humu.9117.
19. Martinez MA. PAH as misfolding disease. International Conference on tetrahydrobiopterin, PKU and NOS. March 23-28 2008, St. Moritz-Champfer, Switzerland.
20. Matalon R, Michals-Matalon K, Koch R, et al (2005) Response of patients with phenylketonuria in the US to tetrahydrobiopterin. Mol Genet Metab 86(Supplement 1): S17-21. doi: 10.1016/j.ymgme.2005.06.024.
21. Milstien S, Kaufman S (1975) Studies on the phenylalanine hydroxylase system in liver slices. J Biol Chem 250(12): 4777-4781.
22. Muntau AC, Röschinger W, Habich M, et al (2002) Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med 347: 2122-2132. doi: 10.1056/NEJMoa021654.
23. Pérez-Dueñas B, Vilaseca MA, Mas A, et al (2004) Tetrahydrobiopterin responsiveness in patients with phenylketonuria. Clin Biochem 37: 1083-1090. doi: 10.1016/j.clinbiochem.2004.09.005.
24. Pey AL, Desviat LR, Gámez A, et al (2003) Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH. Hum Mutat 21(4): 370-378. doi: 10.1002/humu.10198.
25. Pey AL, Pérez B, Desviat LR, et al (2004) Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations. Hum Mutat 24(5): 388-399. doi: 10.1002/humu.20097.
26. Scriver CR, Kaufman S (2001) Hyperphenylalaninemia: Phenylalanine hydroxylase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1667-1724.
27. Shintaku H, Kure S, Ohura T, et al (2004) Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. Pediatr Res 55: 425-430. doi: 10.1203/01.PDR.0000111283.91564.7E.
28. Shintaku H, Fujioka H, Sawada Y, et al (2005) Plasma biopterin levels and tetrahydrobiopterin responsiveness. Mol Genet Metab 86(Supplement 1): S104-106. doi: 10.1016/j.ymgme.2005.06.018.
29. Töpel T, Scholz U, Mischke U, et al (2002) Supporting genotype-phenotype correlation with the rare metabolic diseases database Ramedis. Silico Biol 2(3): 407-414.
30. Trefz FK, Scheible D, Frauendienst-Egger G, et al (2005) Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. Mol Genet Metab 86(Supplement 1): S75-80. doi: 10.1016/j.ymgme.2005.06.026.
31. Zurflüh MR, Zschocke J, Lindner M, et al (2008) Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mutat 29(1): 167-175. doi: 10.1002/humu.20637.