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Background/Objectives. Maternal phenylketonuria syndrome (MPKUS) is the most serious pregnancy complication of women with phenylketonuria (PKU). High phenylalanine (Phe) levels are indeed embryotoxic for the fetus. A low-Phe diet started before conception and maintained throughout pregnancy ensures optimal blood Phe concentrations (120–360 μmol/L) and pregnancy outcome. Women with unplanned pregnancies are at higher risk of MPKUS and require a rapid and sustained reduction of blood Phe. In this retrospective study, we evaluated the effects of dietary intervention on Phe levels and on the clinical parameters of offspring at birth in a group of patients with PKU. We also describe the fetal outcome of unplanned and untreated mothers with PKU. Methods. The cohort consisted of 13 patients for a total of 22 pregnancies: 16 successful pregnancies and 6 abortions. Pregnancies were divided into three groups: “Planned Pregnancies, PP (n = 5)”, “Unplanned Pregnancies, UP (n = 6)”, and “Unplanned and untreated Pregnancies UT (n = 5)”. Results. Women in the UP group showed higher levels of Phe than women in the PP group, especially during the first trimester. The offspring of the UP group showed no congenital malformations but lower median auxologic parameters at birth compared to those from the PP group, although these were not significantly different. The women in the UT group received the diagnosis of PKU after the birth of offspring with MPKUS. Conclusions. A low-Phe diet is critical to prevent MPKUS, especially when started before conception or no later than the 10th week of gestation. Intensive effort is necessary to avoid unplanned pregnancies and to identify undiagnosed women with PKU at risk of MPKUS. Full article

Background: Maternal phenylketonuria (PKU), a metabolic disorder caused by defective phenylalanine hydroxylase activity, requires strict lifelong dietary management to prevent toxic phenylalanine accumulation. During pregnancy, non-adherence to a low-phenylalanine diet can lead to maternal PKU syndrome, resulting in severe neonatal complications, including microcephaly, congenital heart defects, and growth restrictions. Despite advances in metabolic management and preconception care guidelines, adherence remains a significant challenge, particularly among adults transitioning out of pediatric care. This case report examines the clinical consequences of dietary non-adherence in maternal PKU, highlighting the importance of preconception education, metabolic monitoring, and multidisciplinary care in preventing adverse neonatal outcomes. Methods: Using the CARE guidelines, we present the clinical course of a male neonate born to a mother with untreated PKU. Results: The analysis incorporates maternal dietary history, prenatal care details, and neonatal outcomes. Additionally, a review of current literature on maternal PKU management and outcomes contextualizes the findings. The neonate, delivered at 38 weeks via cesarean section, exhibited low birth weight (2150 g), severe microcephaly (head circumference: 28 cm), microphthalmia, and septal heart defects. Maternal dietary non-adherence, beginning in late adolescence, contributed to significantly elevated phenylalanine levels during pregnancy (>20 mg/dL). Prenatal care was initiated in the 23rd week of gestation, delaying dietary intervention. The mother reported limited understanding of the teratogenic risks associated with poor dietary control, which was compounded by gaps in preconception counseling and care continuity. Conclusions: This case underscores the critical need for comprehensive preconception education and lifelong metabolic management for women with PKU. Early and sustained dietary adherence is essential to mitigate neonatal risks. Public health initiatives should prioritize access to preconception care, enhance patient education, and establish robust multidisciplinary support systems to optimize maternal and neonatal outcomes. Addressing barriers such as delayed care initiation and limited dietary support can significantly reduce the burden of maternal PKU syndrome. Full article

Background: Maternal phenylketonuria (PKU) syndrome, leading to severe psychomotor retardation, microcephaly, cardiac defects and undergrowth, affects the unborn children of mothers with PKU with insufficient metabolic control during pregnancy. To improve long-term outcomes, a specific prevention program was developed. Methods: We designed a group training program for young women with PKU (>14 years) and their partners. Knowledge regarding PKU therapy and pregnancy was evaluated by a specifically developed multiple-choice questionnaire. In addition, scores of anxiety and depression were evaluated. Results: Patients (n = 20) and their partners (n = 13) significantly improved their knowledge after participation (correct answers: patients—86% vs. 90%, p = 0.003; partners—78% vs. 89%, p = 0.012). Females significantly improved their knowledge about diet (90% vs. 100%, p = 0.035) and metabolism (91% vs. 100%, p = 0.016), but not concerning gynecological topics. Patients’ median depression scores were within the normative range, with a slight decrease over time (6 points vs. 4 points, p = 0.836). Patients’ anxiety score remained stable over time (5.5 vs. 5, p = 0.247). Of trained mothers with PKU, four pregnancies with ideal metabolic control and healthy offspring could be observed. Conclusion: We suggest the inclusion of specific training programs in the standard care of female young adults with PKU, including for their partners. Full article