Medical Problems in Obstetrics: Inherited Metabolic Disease

• The role of prepregnancy counselling in women with inherited disorders of metabolism.
• Prevention of the maternal phenylketonuria (PKU) syndrome.
• Management of pregnancy in women on restricted diets.
• Management of pregnancy and the puerperium in women with disorders of protein / energy metabolism.
• The role of multidisciplinary management and regular clinical and biochemical monitoring in ensuring good pregnancy outcomes.

An increasing number of women with rare inherited disorders of metabolism are becoming pregnant. Although, in general, outcomes for women and their children are good, there are a number of issues that need to be considered. Currently, limited specific guidance on the management of these conditions in pregnancy is available. Prepregnancy counselling with information on inheritance, options for reproduction, teratogenicity risk, potential impact on maternal health and long-term health of children should be offered. With appropriate specialist management, the teratogenic risk of conditions such as maternal phenylketonuria (PKU) can be eliminated, and the risk of metabolic decompensation in disorders of energy metabolism or intoxication significantly reduced. Multidisciplinary management, and close liaison between obstetricians and other specialists, is required for those women in whom there is cardiac, renal, respiratory, joint or other organ involvement.