Literature DB >> 10484807

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

S Kure1, D C Hou, T Ohura, H Iwamoto, S Suzuki, N Sugiyama, O Sakamoto, K Fujii, Y Matsubara, K Narisawa.   

Abstract

Serum phenylalanine concentrations decreased in 4 patients with hyperphenylalaninemia after loading with tetrahydrobiopterin. There were no abnormalities in urinary pteridine excretion or in dihydropteridine reductase activity. However, mutations were detected in the phenylalanine hydroxylase gene, suggesting a novel subtype of phenylalanine hydroxylase deficiency that may respond to treatment with cofactor supplementation.

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Year:  1999        PMID： 10484807     DOI： 10.1016/s0022-3476(99)70138-1

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  84 in total

1.  Newborn screening.

Authors:  James J Pitt
Journal:  Clin Biochem Rev       Date:  2010-05

2.  Advances and challenges in phenylketonuria.

Authors:  Cary O Harding; Nenad Blau
Journal:  J Inherit Metab Dis       Date:  2010-12       Impact factor: 4.982

Review 3.  Phenylketonuria: a 21st century perspective.

Authors:  Francjan J van Spronsen
Journal:  Nat Rev Endocrinol       Date:  2010-09       Impact factor: 43.330

4.  Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria.

Authors:  Thomas Opladen; Marcel Zurflüh; Ilse Kern; Lucja Kierat; Beat Thöny; Nenad Blau
Journal:  Eur J Pediatr       Date:  2005-02-22       Impact factor: 3.183

5.  Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.

Authors:  F K Trefz; D Scheible; H Götz; G Frauendienst-Egger
Journal:  J Inherit Metab Dis       Date:  2008-10-30       Impact factor: 4.982

6.  Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.

Authors:  Robert Steinfeld; Alfried Kohlschütter; Johannes Zschocke; Martin Lindner; Kurt Ullrich; Zoltan Lukacs
Journal:  Eur J Pediatr       Date:  2002-07       Impact factor: 3.183

Review 7.  What we know that could influence future treatment of phenylketonuria.

Authors:  C N Sarkissian; A Gámez; C R Scriver
Journal:  J Inherit Metab Dis       Date:  2008-08-03       Impact factor: 4.982

8.  Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.

Authors:  Meghan E Quirk; Steven F Dobrowolski; Benjamin E Nelson; Bradford Coffee; Rani H Singh
Journal:  Mol Genet Metab       Date:  2012-07-20       Impact factor: 4.797

9.  Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control.

Authors:  M Lindner; G Gramer; S F Garbade; P Burgard
Journal:  J Inherit Metab Dis       Date:  2009-06-10       Impact factor: 4.982

10.  Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients.

Authors:  J Weglage; M Grenzebach; A von Teeffelen-Heithoff; T Marquardt; R Feldmann; J Denecke; D Gödde; H G Koch
Journal:  J Inherit Metab Dis       Date:  2002-08       Impact factor: 4.982
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