Literature DB >> 16338627

Tetrahydrobiopterin and maternal PKU.

Richard Koch1, Kathryn Moseley, Flemming Guttler.   

Abstract

A 29-year-old woman with PKU is presented, who was successfully treated with phenylalanine restriction as well as oral BH4 during this pregnancy, with a normal outcome. Her PAH mutation was R408W/F39L. Remarkably, the blood phenylalanine control was easily accomplished during this pregnancy. The lack of nausea and vomiting during the first trimester suggests that the occurrence of CHD in babies born to women with PKU may be reduced with BH4.

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Year:  2005        PMID： 16338627     DOI： 10.1016/j.ymgme.2005.09.004

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


  12 in total

1.  Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome.

Authors:  Jessica A Scott Schwoerer; Lisa Obernolte; Sandra Van Calcar; Susan Heighway; Heather Bankowski; Phillip Williams; Gregory Rice
Journal:  JIMD Rep       Date:  2012-01-31

Review 2.  Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency.

Authors:  Shigeo Kure; Haruo Shintaku
Journal:  J Hum Genet       Date:  2018-11-30       Impact factor: 3.172

3.  Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases.

Authors:  François Feillet; Ania C Muntau; François-Guillaume Debray; Amelie S Lotz-Havla; Alexandra Puchwein-Schwepcke; Ma'atem Béatrice Fofou-Caillierez; Francjan van Spronsen; Fritz Friedrich Trefz
Journal:  J Inherit Metab Dis       Date:  2014-05-01       Impact factor: 4.982

4.  Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders.

Authors:  O Kuseyri; A Weissbach; N Bruggemann; C Klein; M Giżewska; D Karall; S Scholl-Bürgi; H Romanowska; E Krzywińska-Zdeb; A A Monavari; I Knerr; Z Yapıcı; V Leuzzi; T Opladen
Journal:  J Inherit Metab Dis       Date:  2018-03-28       Impact factor: 4.982

Review 5.  Which neuroprotective agents are ready for bench to bedside translation in the newborn infant?

Authors:  Nicola J Robertson; Sidhartha Tan; Floris Groenendaal; Frank van Bel; Sandra E Juul; Laura Bennet; Matthew Derrick; Stephen A Back; Raul Chavez Valdez; Frances Northington; Alistair Jan Gunn; Carina Mallard
Journal:  J Pediatr       Date:  2012-02-09       Impact factor: 4.406

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

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

7.  Maternal tetrahydrobiopterin deficiency: the course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency.

Authors:  M Giżewska; G Hnatyszyn; L Sagan; L Cyryłowski; C Zekanowski; M Modrzejewska; B Nestorowicz; J Kubalska; M Walczak
Journal:  J Inherit Metab Dis       Date:  2009-03-30       Impact factor: 4.982

8.  Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia.

Authors:  G Gramer; P Burgard; S F Garbade; M Lindner
Journal:  J Inherit Metab Dis       Date:  2007-08-06       Impact factor: 4.982

Review 9.  The complete European guidelines on phenylketonuria: diagnosis and treatment.

Authors:  A M J van Wegberg; A MacDonald; K Ahring; A Bélanger-Quintana; N Blau; A M Bosch; A Burlina; J Campistol; F Feillet; M Giżewska; S C Huijbregts; S Kearney; V Leuzzi; F Maillot; A C Muntau; M van Rijn; F Trefz; J H Walter; F J van Spronsen
Journal:  Orphanet J Rare Dis       Date:  2017-10-12       Impact factor: 4.123

Review 10.  A practical approach to maternal phenylketonuria management.

Authors:  F Maillot; P Cook; M Lilburn; P J Lee
Journal:  J Inherit Metab Dis       Date:  2007-03-09       Impact factor: 4.750
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