Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802. Issue 4 (April 2020)

• Record Type: Journal Article
• Authors: N/A,
• Is Part Of: Obstetrics and gynecology. Volume 135:Issue 4(2020)
• Publication Date: 2020-04
• Subjects: Obstetrics -- Periodicals; Gynecology -- Periodicals; 618
• DOI: 10.1097/AOG.0000000000003769
• Languages: English
• ISSNs: 0029-7844

Abstract

Abstract : ABSTRACT: Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder of phenylalanine metabolism that is characterized by insufficient activity of PAH, a hepatic enzyme. Throughout this document, PAH deficiency is used instead of the older nomenclature of phenylketonuria, in order to reflect the spectrum of PAH deficiency and in accordance with the terminology established by the American College of Medical Genetics and Genomics. Aspects of PAH deficiency management that are particularly relevant to obstetrician–gynecologists or other obstetric care providers include the prevention of embryopathy associated with maternal hyperphenylalaninemia and PAH deficiency and the risk of genetic transmission of PAH deficiency. Family planning and prepregnancy counseling are recommended for all reproductive-aged women with PAH deficiency. The fetal brain and heart are particularly vulnerable to high maternal concentrations of phenylalanine. The crucial role played by maternal dietary restriction before and during pregnancy should be stressed in counseling patients with PAH deficiency; the goal should be to normalize blood phenylalanine levels (less than 6 mg/dL) for at least 3 months before becoming pregnant and to maintain at 2–6 mg/dL during pregnancy, in order to optimize developmental outcomes for the fetus. Although phenylalanine levels are increased in the breast milk of patients with PAH deficiency, breastfed infants who do not have PAH deficiency have normal enzyme levels and no dietary restriction. Breastfeeding is safe for infants born to women who have PAH deficiency provided the infants do not have PAH deficiency. Coordinated medical and nutritional care, as well as follow-up with the patient's metabolic geneticist or specialist, are important in the postpartum period. Because newborns with PAH deficiency appear normal at birth and early detection can improve developmental outcomes for children, newborn screening for PAH deficiency is mandated in all states. This Committee Opinion has been revised to include updates on advances in the understanding and management of women with PAH deficiency and recommendations on prepregnancy counseling, serial fetal growth assessments, and fetal echocardiography.