Literature DB >> 11350190

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.

M Lindner1, D Haas, E Mayatepek, J Zschocke, P Burgard.   

Abstract

Recently, BH(4)-responsive phenylalanine hydroxylase (PAH) deficiency was reported in patients with specific mutations in the PAH gene, and it was suggested that BH(4) responsiveness may be determined by the respective genotypes. We now report on three patients with PAH deficiency and the same genotype but different responses to standardized BH(4) loading. Our results suggest that BH(4) responsiveness in PAH deficiency is at least partly independent from PAH genotype. Copyright 2001 Academic Press.

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Year:  2001        PMID： 11350190     DOI： 10.1006/mgme.2001.3168

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  18 in total

1.  Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

Authors:  Christineh N Sarkissian; Alejandra Gamez; Patrick Scott; Jerome Dauvillier; Alejandro Dorenbaum; Charles R Scriver; Raymond C Stevens
Journal:  JIMD Rep       Date:  2011-12-06

Review 2.  Sapropterin dihydrochloride for phenylketonuria.

Authors:  Usha Rani Somaraju; Marcus Merrin
Journal:  Cochrane Database Syst Rev       Date:  2015-03-27

3.  Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life.

Authors:  B Ziesch; J Weigel; A Thiele; U Mütze; C Rohde; U Ceglarek; J Thiery; W Kiess; S Beblo
Journal:  J Inherit Metab Dis       Date:  2012-03-06       Impact factor: 4.982

4.  Large neutral amino acids in the treatment of phenylketonuria (PKU).

Authors:  R Matalon; K Michals-Matalon; G Bhatia; E Grechanina; P Novikov; J D McDonald; J Grady; S K Tyring; F Guttler
Journal:  J Inherit Metab Dis       Date:  2006-09-21       Impact factor: 4.982

Review 5.  Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings.

Authors:  U Lässker; J Zschocke; N Blau; R Santer
Journal:  J Inherit Metab Dis       Date:  2002-02       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

7.  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

8.  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

9.  New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride.

Authors:  Cary O Harding
Journal:  Biologics       Date:  2010-08-09

10.  The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.

Authors:  Gladys Ho; Ian Alexander; Kaustuv Bhattacharya; Barbara Dennison; Carolyn Ellaway; Sue Thompson; Bridget Wilcken; John Christodoulou
Journal:  JIMD Rep       Date:  2013-12-25
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