Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy

Background Insufficient metabolic control during pregnancy of mothers with phenylketonuria (PKU) leads to maternal PKU syndrome, a severe embryo-/fetopathy. Since maintaining or reintroducing the strict phenylalanine (Phe) limited diet in adults with PKU is challenging, we evaluated the most important dietary and psychosocial factors to gain and sustain good metabolic control in phenylketonuric women throughout pregnancy by a questionnaire survey with 38 questions concerning therapy feasibility. Among them, the key questions covered 5 essential items of PKU care as follows: General information about maternal PKU, PKU training, diet implementation, individual metabolic care, personal support. In addition, all participating PKU mothers were asked to estimate the quality of their personal metabolic control of the concluded pregnancies. 54 PKU mothers with 81 pregnancies were approached at 12 metabolic centers in Germany and Austria were included. According to metabolic control, pregnancies of PKU women were divided in two groups: group ideal (not more than 5% of all blood Phe concentrations during pregnancy > 360 mu mol/l; n = 23) and group suboptimal (all others; n = 51). Results The demand for support was equally distributed among groups, concerning both amount and content. Personal support by the direct social environment (partner, family and friends) (suboptimal 71% vs ideal 78%) as well as individual metabolic care by the specialized metabolic center (both groups around 60%) were rated as most important factors. The groups differed significantly with respect to the estimation of the quality of their metabolic situation (p < 0.001). Group ideal presented a 100% realistic self-assessment. In contrast, group suboptimal overestimated their metabolic control in 53% of the pregnancies. Offspring of group suboptimal showed clinical signs of maternal PKU-syndrome in 27%. Conclusion The development of training programs by specialized metabolic centers for females with PKU in child bearing age is crucial, especially since those mothers at risk of giving birth to a child with maternal PKU syndrome are not aware of their suboptimal metabolic control. Such programs should provide specific awareness training for the own metabolic situation and should include partners and families.

Automated summary

Maintaining good metabolic control in pregnant women with PKU depends on the support provided by individuals and specialized centers, especially the personal support from family and social environment plays a crucial role in controlling the condition of pregnant women with PKU.