Definition:

Maternal PKU (Phenylketonuria) refers to a condition where a woman with PKU, a genetic disorder that affects metabolism, becomes pregnant. Maternal PKU poses health risks for both the mother and the developing fetus.

Risks:

When a woman with PKU does not follow a strict low-phenylalanine diet before or during pregnancy, it can lead to various complications:

• Intellectual Disability: Elevated levels of phenylalanine in the mother’s blood can cross the placenta and harm the developing baby’s brain, leading to intellectual disability in the child.
• Microcephaly: Maternal PKU can also cause microcephaly, a condition where the baby’s head and brain are abnormally small, resulting in potential developmental delays.
• Heart Defects: Babies of mothers with uncontrolled PKU are at a higher risk of congenital heart defects, including abnormalities in the heart structure or function.
• Growth Problems: Maternal PKU can affect the baby’s growth in the womb, leading to low birth weight or being small for gestational age.

Prevention:

Managing maternal PKU requires strict adherence to a low-phenylalanine diet prior to conception and throughout pregnancy. Maintaining normal phenylalanine levels in the mother’s blood significantly reduces the risk of complications for the developing baby.

Women with PKU who are planning to become pregnant should work closely with healthcare professionals, such as dietitians and maternal-fetal medicine specialists, to develop an appropriate dietary plan. Regular monitoring of blood phenylalanine levels is crucial to adjust the diet accordingly.

Conclusion:

Maternal PKU emphasizes the importance of proactively managing PKU through dietary intervention in order to minimize the risks to both the mother and the baby during pregnancy. With proper medical care and adherence to a low-phenylalanine diet, the potential complications associated with maternal PKU can be significantly reduced.