Literature DB >> 16763893

Pregnancy issues in inherited metabolic disorders.

Philip J Lee1.   

Abstract

Increasing numbers of individuals with inherited metabolic disorders are surviving into adulthood and considering their reproductive options. This paper discusses a practical approach to supporting such individuals, focusing on issues concerning fertility, the impact of pregnancy on metabolism and the metabolic disorder itself on the pregnancy, as well as highlighting the need to pay special attention during the postpartum period. Apart from pregnancies in women with phenylketonuria, there is a dearth of data in this area and a great need for collection of information within registries to aid our understanding of potential problems and counselling of women and their partners.

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Year:  2006        PMID： 16763893     DOI： 10.1007/s10545-005-0252-1

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  43 in total

1.  Generalized glutathione synthetase deficiency and pregnancy.

Authors:  E Ristoff; C Augustson; A Larsson
Journal:  J Inherit Metab Dis       Date:  1999-08       Impact factor: 4.982

2.  Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.

Authors:  S Wendt; C Whybra; C Kampmann; E Teichmann; M Beck
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

3.  Successful pregnancy in a patient with type III glycogen storage disease managed with cornstarch supplements.

Authors:  A Mendoza; N C Fisher; J Duckett; J McKiernan; M A Preece; A Green; P J McKiernan; G Constantine; E Elias
Journal:  Br J Obstet Gynaecol       Date:  1998-06

4.  Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy.

Authors:  A C Sewell; J Herwig; I Wiegratz; W Lehnert; H Niederhoff; X Q Song; N Kondo; T Fukao
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

5.  Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma.

Authors:  P H Arn; E R Hauser; G H Thomas; G Herman; D Hess; S W Brusilow
Journal:  N Engl J Med       Date:  1990-06-07       Impact factor: 91.245

6.  Successful pregnancy in severe methylmalonic acidaemia.

Authors:  M P Wasserstein; S Gaddipati; S E Snyderman; K Eddleman; R J Desnick; C Sansaricq
Journal:  J Inherit Metab Dis       Date:  1999-10       Impact factor: 4.982

7.  Maternal methionine adenosyltransferase I/III deficiency: reproductive outcomes in a woman with four pregnancies.

Authors:  S H Mudd; A Tangerman; S P Stabler; R H Allen; C Wagner; S H Zeisel; H L Levy
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

8.  Pregnancy and delivery after stimulation with rFSH of a galatosemia patient suffering hypergonadotropic hypogonadism: case report.

Authors:  Yves J R Menezo; Maryse Lescaille; Bernard Nicollet; Edouard J Servy
Journal:  J Assist Reprod Genet       Date:  2004-03       Impact factor: 3.412

9.  Acute postpartum mental status change and coma caused by previously undiagnosed ornithine transcarbamylase deficiency.

Authors:  Dirk E Peterson
Journal:  Obstet Gynecol       Date:  2003-11       Impact factor: 7.661

10.  Pregnancies in Gaucher disease: a 5-year study.

Authors:  Yonatan Elstein; Vered Eisenberg; Sorina Granovsky-Grisaru; Ron Rabinowitz; Arnon Samueloff; Ari Zimran; Deborah Elstein
Journal:  Am J Obstet Gynecol       Date:  2004-02       Impact factor: 8.661
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  14 in total

1.  Biochemical Monitoring and Management During Pregnancy in Patients with Isovaleric Acidaemia is Helpful to Prevent Metabolic Decompensation.

Authors:  D D J Habets; N C Schaper; H Rogozinski; F J van Spronsen; M van Rijn; J Bierau; J A Bakker
Journal:  JIMD Rep       Date:  2011-09-27

2.  The management of pregnancy in maple syrup urine disease: experience with two patients.

Authors:  Michel Tchan; M Westbrook; G Wilcox; R Cutler; N Smith; R Penman; B J G Strauss; B Wilcken
Journal:  JIMD Rep       Date:  2013-02-14

3.  Pregnancy and its management in women with GSD type III - a single centre experience.

Authors:  Radha Ramachandran; Yehani Wedatilake; Caroline Coats; Fiona Walker; Perry Elliott; Philip J Lee; Robin H Lachmann; Elaine Murphy
Journal:  J Inherit Metab Dis       Date:  2011-09-07       Impact factor: 4.982

4.  A series of pregnancies in women with inherited metabolic disease.

Authors:  Janneke G Langendonk; Jonathan C P Roos; Lindsay Angus; Monique Williams; François P J Karstens; Johannes B C de Klerk; Charlé Maritz; Tawfeg Ben-Omran; Catherine Williamson; Robin H Lachmann; Elaine Murphy
Journal:  J Inherit Metab Dis       Date:  2011-09-15       Impact factor: 4.982

5.  Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency.

Authors:  Miyu Meguro; Yoichi Wada; Yurina Kisou; Chihiro Sugawara; Yoshihiro Akimoto; Shigeo Kure
Journal:  Mol Genet Metab Rep       Date:  2022-10-10

6.  Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors.

Authors:  E Martín-Hernández; P J Lee; A Micciche; S Grunewald; R H Lachmann
Journal:  J Inherit Metab Dis       Date:  2009-07-23       Impact factor: 4.982

7.  Outcome of three cases of untreated maternal glutaric aciduria type I.

Authors:  Paula Garcia; Esmeralda Martins; Luísa Diogo; Hugo Rocha; Ana Marcão; Eurico Gaspar; Margarida Almeida; Catarina Vaz; Isabel Soares; Clara Barbot; Laura Vilarinho
Journal:  Eur J Pediatr       Date:  2007-07-28       Impact factor: 3.183

8.  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

Review 9.  Pregnancy in women with inherited metabolic disease.

Authors:  Elaine Murphy
Journal:  Obstet Med       Date:  2015-03-29

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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