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The Prevention of Maternal Phenylketonuria (PKU) Syndrome: The Development and Evaluation of a Specific Training Program.
Nutrients
November 2024
Department of Women and Child Health, Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Liebigstraße 20 a, 04103 Leipzig, Germany.
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.
Genetic disorders in maternal medicine.
Best Pract Res Clin Obstet Gynaecol
December 2024
UCD Perinatal Research Centre, University College Dublin, National Maternity Hospital, Dublin, Ireland.
The role of genetic testing within maternal medicine is expanding. Advancing technology and the increasing availability of genetic testing have seen more patients receiving a genetic diagnosis than ever before. Improved healthcare and understanding of these rare diseases means that many patients are living well into their reproductive years and starting families.
View Article and Find Full Text PDFBreastfeeding in PKU and Other Amino Acid Metabolism Disorders-A Single Centre Experience.
Nutrients
August 2024
Institute of Mother and Child, Department of Inborn Errors of Metabolism and Paediatrics, Kasprzaka 17A, 01-211 Warsaw, Poland.
In addition to the numerous immunological and nutritional benefits that breast milk offers to infants, its proportion in the diet must be limited or even excluded in the case of inborn errors of amino acid metabolism (IEM). The objective of the study was to expand knowledge about breastfeeding and the degree of contribution of breast milk to the feeding of infants with IEM before and after the introduction of expanded newborn screening. A retrospective single-centre study was conducted on 127 infants born between 1997 and 2020: 66 with phenylketonuria (PKU), 45 with other IEM (non-PKU), all diagnosed through newborn screening (NBS), and 16 non-PKU diagnosed through selective screening (SS).
View Article and Find Full Text PDFThe Experience of Phenylketonuria in Pregnancy and the Developing Maternal-Infant Relationship: A Qualitative Study.
Qual Health Res
January 2025
School of Psychology, University of Birmingham, Birmingham, UK.
Phenylketonuria (PKU) is a rare metabolic condition characterised by an inability to metabolise phenylalanine (Phe), found in many foods. When pregnant with PKU, women must adhere to a strict low-Phe diet. If they do not, foetal abnormalities or pregnancy loss can occur.
View Article and Find Full Text PDFThe struggle that is phenylketonuria: What do the patients and caregivers suffer from.
Medicine (Baltimore)
June 2024
Division of Pediatric Metabolism, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
To assess stress levels and life hardships of patients with phenylketonuria and their parents. Between January 2020 and June 2020, 156 patients with PKU and their parents who arrived for regular examinations were included. Parents were asked to complete the parenting stress index, Zarit Burden Scale, and the Strengths and Difficulties Questionnaire (SDQ), and children over the age of 11 were asked to fill the Rosenberg Self-Esteem Scale, the State-Trait Anxiety Inventory, and the SDQ.
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