Tetrahydrobiopterin and maternal PKU.

Abstract excerpt

A 29-year-old woman with PKU is presented, who was successfully treated with phenylalanine restriction as well as oral BH4 during this pregnancy, with a normal outcome. Her PAH mutation was R408W/F39L. Remarkably, the blood phenylalanine control was easily accomplished during this pregnancy. The lack of nausea and vomiting during the first trimester suggests that the occurrence of CHD in babies born to women with...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amino Acid Metabolism, Inborn Errors
• Share to Biopterins
• Share to Combined Modality Therapy