Journal of Inherited Metabolic Disease

, Volume 29, Issue 2, pp 311–316

Pregnancy issues in inherited metabolic disorders


DOI: 10.1007/s10545-005-0252-1

Cite this article as:
Lee, P.J. J Inherit Metab Dis (2006) 29: 311. doi:10.1007/s10545-005-0252-1


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.

Copyright information

© SSIEM and Springer 2006

Authors and Affiliations

  1. 1.The Charles Dent Metabolic UnitThe National Hospital for Neurology and NeurosurgeryLondonUK

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