Long-Term Treatment and Diagnosis of Tetrahydrobiopterin-Responsive Hyperphenylalaninemia with A Mutant Phenylalanine Hydroxylase Gene

Pediatric Research

Volumn 55, Issue 3, 2004, Pages 425-430

  Shintaku, Haruo ^a   Kure, Shigeo ^b   Ohura, Toshihiro ^b   Okano, Yoshiyuki ^a   Ohwada, Misao ^c   Sugiyama, Naruji ^d   Sakura, Nobuo ^e   Yoshida, Ichiro ^f   Yoshino, Makoto ^f   Matsubara, Yoichi ^b   Suzuki, Ken ^g   Aoki, Kikumaro ^h   Kitagawa, Teruo ^g  

^a OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c SURUGADAI NIHON UNIVERSITY HOSPITAL   (Japan)

^d Yokkaichi Municipal Hospital   (Japan)

^e HIROSHIMA UNIVERSITY   (Japan)

^f KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g Tokyo Association of Health Service   (Japan)

^h KAGAWA NUTRITION UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; CONCENTRATION RESPONSE; CORRELATION ANALYSIS; DIET RESTRICTION; DOSE RESPONSE; DRUG EFFICACY; EVALUATION; GENE MUTATION; HUMAN; HYPERPHENYLALANINEMIA; JAPAN; LONG TERM CARE; PHENYLKETONURIA; PRIORITY JOURNAL;

BIOPTERIN; HUMANS; MUTATION; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS;

EID: 10744221135     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.PDR.0000111283.91564.7E     Document Type: Article

References (16)

1. Kure S, Hou DC, Ohura T, Iwamoto H, Suzuki S, Sugiyama N. Sakamoto O, Fujii K. Matsubara Y, Narisawa K 1999 Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr 135:375-378
2. Shintaku H, Asada M, Sawada Y, Yamano T 2000 Tetrahydrobiopterin-responsive hyperphenylalaninemia without biopterin deficiency. Pteridines 11:83-84
3. Arai N, Narisawa K, Hayakawa H, Tada K 1982 Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots. Pediatrics 70:426-430
4. Okano Y, Eisensmith RC, Dasovich M, Wang T, Guttler F, Woo SL 1991 A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia. Eur J Pediatr 150:347-352
5. Okano Y, Asada M, Kang Y, Nishi Y, Hase Y, Oura T, Isshiki G 1998 Molecular characterization of phenylketonuria in Japanese patients. Hum Genet 103:613-618
6. Takahashi K, Kure S, Matsubara Y, Narisawa K 1992 Novel phenylketonuria mutation detected by analysis of ectopically transcribed phenylalanine hydroxylasc mRNA from lymphoblast. Lancet 340:1473
7. Lässker U, Zschocke J, Blau N, Santer R 2002 Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings. J Inherit Metab Dis 25:65-70
8. Spaapen LJ, Bakker JA, Velter C, Loots W, Rubio-Gozalbo ME, Forget PP, Dorland L, De Koning TJ, Poll-The BT, Ploos van Amstel HK, Bekhof J, Blau N, Duran M, Rubio-Gonzalbo ME 2001 Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates. J Inherit Metab Dis 24:352-358
9. Trefz FK, Aulela-Scholz C, Blau N 2001 Successful treatment of phenylketonuria with tetrahydrobiopterin. Eur J Pediatr 160:315
10. Steinfeld R, Kohlschutter A, Zschocke J, Lindner M, Ullrich K, Lukacs Z 2001 Tetrahydrobiopterin-responsiveness associated with common phenylalanine-hydroxylase mutations distant from the tetrahydrobiopterin binding site. J Inherit Metab Dis 24:29
11. Nuoffer JM, Töny B, Romstad A, Blau N 2001 A patient with phenylketonuria successfully treated with tetrahydrobiopterin. J Inherit Metab Dis 24:29
12. Lindner M, Haas D, Mayatepek E, Zschocke J, Burgard P 2001 Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype. Mol Genet Metab 73:104-106
13. Erlandsen H, Stevens RC 2001 A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria. J Inherit Metab Dis 24:213-230
14. Blau N, Trefz FK 2002 Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation. Mol Genet Metab 75:186-187
15. Muntau AC, Roschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff CP, Roscher AA 2002 Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med 347:2122-2132
16. DiLella AG, Marvit J, Brayton K, Woo SL 1987 An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature 327:333-336