Literature DB >> 15171997

The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Nenad Blau1, Heidi Erlandsen.   

Abstract

About two-thirds of all mild phenylketonuria (PKU) patients are tetrahydrobiopterin (BH4)-responsive and thus can be potentially treated with BH4 instead of a low-phenylalanine diet. Although there has been an increase in the amount of information relating to the diagnosis and treatment of this new variant of PKU, very little is know about the mechanisms of BH4-responsiveness. This review will focus on laboratory investigations and possible molecular and structural mechanisms involved in this process.

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Year:  2004        PMID： 15171997     DOI： 10.1016/j.ymgme.2004.03.006

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


  49 in total

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2.  Advances and challenges in phenylketonuria.

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3.  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

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Review 5.  Sapropterin dihydrochloride for phenylketonuria.

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Journal:  Cochrane Database Syst Rev       Date:  2015-03-27

6.  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

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.  High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU).

Authors:  Shelley R Winn; Tanja Scherer; Beat Thöny; Cary O Harding
Journal:  Mol Genet Metab       Date:  2015-11-26       Impact factor: 4.797

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

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

10.  Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.

Authors:  Dani Bercovich; Arava Elimelech; Joel Zlotogora; Sigal Korem; Tal Yardeni; Nurit Gal; Nurit Goldstein; Bela Vilensky; Roni Segev; Smadar Avraham; Ron Loewenthal; Gerard Schwartz; Yair Anikster
Journal:  J Hum Genet       Date:  2008-02-26       Impact factor: 3.172
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