Literature DB >> 11043148

Survey of national guidelines for the treatment of phenylketonuria.

S Schweitzer-Krantz1, P Burgard.   

Abstract

UNLABELLED: Phenylketonuria treatment policies vary not only between different countries worldwide, but also within one country. Recommendations and guidelines for phenylketonuria should deal with the following subjects: 1. What is the target age to start dietary phenylalanine restriction under newborn-screening conditions? 2. At which plasma phenylalanine concentration should phenylalanine restriction be initiated? 3. Which are the recommended plasma phenylalanine concentrations at different ages? 4. What is the recommended frequency of monitoring phenylalanine in plasma? Statements from the following countries are presented: Czech Republic, Denmark, France, Germany, Great Britain, Hungary, Ireland, Poland, Slovakia and the United States.
CONCLUSION: Due to the lack of internationally accepted guidelines, management of phenylketonuria still varies between different countries. Our efforts should focus on the formulation of internationally acceptable and accepted recommendations for the treatment of patients with phenylketonuria at different ages.

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Year:  2000        PMID: 11043148     DOI: 10.1007/pl00014385

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  14 in total

1.  Clinical therapeutics for phenylketonuria.

Authors:  Jaspreet Singh Kochhar; Sui Yung Chan; Pei Shi Ong; Lifeng Kang
Journal:  Drug Deliv Transl Res       Date:  2012-08       Impact factor: 4.617

2.  Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations.

Authors:  Y H Chien; S C Chiang; A Huang; J M Lin; Y N Chiu; S P Chou; S Y Chu; T R Wang; W L Hwu
Journal:  J Inherit Metab Dis       Date:  2001-12       Impact factor: 4.982

Review 3.  Current situation and prospects of newborn screening and treatment for Phenylketonuria in China - compared with the current situation in the United States, UK and Japan.

Authors:  Lin Mei; Peipei Song; Norihiro Kokudo; Lingzhong Xu; Wei Tang
Journal:  Intractable Rare Dis Res       Date:  2013-11

4.  Cultural aspects in the management of inborn errors of metabolism.

Authors:  Sylvia Stockler; Dorothea Moeslinger; Marion Herle; Banu Wimmer; Osman S Ipsiroglu
Journal:  J Inherit Metab Dis       Date:  2012-02-23       Impact factor: 4.982

5.  Quality of life in noncompliant adults with phenylketonuria after resumption of the diet.

Authors:  M Bik-Multanowski; B Didycz; R Mozrzymas; M Nowacka; L Kaluzny; W Cichy; B Schneiberg; J Amilkiewicz; A Bilar; M Gizewska; A Lange; E Starostecka; A Chrobot; B I Wojcicka-Bartlomiejczyk; A Milanowski
Journal:  J Inherit Metab Dis       Date:  2008-10-29       Impact factor: 4.982

Review 6.  The truth of treating patients with phenylketonuria after childhood: the need for a new guideline.

Authors:  F J van Spronsen; P Burgard
Journal:  J Inherit Metab Dis       Date:  2008-08-12       Impact factor: 4.982

7.  Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study.

Authors:  Sarah Leuders; Eva Wolfgart; Torsten Ott; Marcel du Moulin; Agnes van Teeffelen-Heithoff; Lydia Vogelpohl; Ulrike Och; Thorsten Marquardt; Josef Weglage; Reinhold Feldmann; Frank Rutsch
Journal:  JIMD Rep       Date:  2013-11-05

8.  Noninvasive measurement of phenylalanine by iontophoretic extraction in patients with phenylketonuria.

Authors:  N Longo; S K Li; G Yan; R P Kochambilli; K Papangkorn; D Berglund; A-H Ghanem; C L Ashurst; S L Ernst; M Pasquali; W I Higuchi
Journal:  J Inherit Metab Dis       Date:  2007-10-05       Impact factor: 4.982

9.  Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria.

Authors:  R Steinfeld; A Kohlschütter; K Ullrich; Z Lukacs
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

10.  PKU-what is daily practice in various centres in Europe? Data from a questionnaire by the scientific advisory committee of the European Society of Phenylketonuria and Allied Disorders.

Authors:  F J van Spronsen; K Kiaer Ahring; M Gizewska
Journal:  J Inherit Metab Dis       Date:  2009-01-13       Impact factor: 4.982

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