Pregnancy issues in inherited metabolic disorders

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.