The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria.

Strict metabolic control with dietary treatment during pregnancy is essential for women with phenylketonuria (PKU), as elevated levels of phenylalanine (Phe) are toxic to the developing fetus. Maternal delay in achievement of the recommended Phe level during pregnancy is associated with delayed development of the child. However, the extent to which risk is changed by later or less stringently performed dietary treatment is unclear. The aim of this study was to investigate the impact of Phe levels and time of initiation of a Phe-restricted diet in pregnant women with PKU on birth weight, head circumference and later development of their children. Birth data were obtained from the medical records of women with PKU giving birth in the period 1980-2020. Later development was investigated by interviewing the mothers about their children's development and health. We included 79 children of 41 women with PKU. The women showed good adherence with the diet and had mean blood Phe levels within target range (248 ± 62 μmol/L). The children's development was not affected by fluctuations in the women's Phe levels, that occurred especially in first trimester. Despite maternal Phe levels being within target range, 19 children (26.8%) had low birth weight below 10th percentile. This study indicates that with dietary treatment, the children are born with the same prospect for normal development and health as children born to non-PKU mothers. This is despite maternal fluctuations in the Phe levels during first trimester.