Which condition can lead to recurrent pregnancy loss when uncontrolled?

Phenylketonuria (PKU) is an inherited metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase. If individuals with PKU do not manage their phenylalanine levels through dietary restrictions, elevated levels of this amino acid can have severe consequences, particularly during pregnancy.

In pregnant women with uncontrolled PKU, high phenylalanine levels can cross the placenta and affect the developing fetus. This can lead to a range of fetal complications, including developmental delays and congenital heart defects, but one of the most significant risks is recurrent pregnancy loss.

The elevated phenylalanine levels can disrupt normal cellular processes necessary for maintaining a healthy pregnancy, thus increasing the risk for spontaneous miscarriage or stillbirth. Therefore, rigorous dietary management before and during pregnancy is crucial for women with PKU to minimize these risks and improve pregnancy outcomes.

This highlights the importance of genetic counseling and medical management for those affected by PKU, especially for women of childbearing age, ensuring they are aware of the risks and the need for careful monitoring and dietary control.