Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy

Carmen Rohde; Alena Gerlinde Thiele; Christoph Baerwald; Rudolf Georg Ascherl; Dinah Lier; Ulrike Och; Christina Heller; Alexandra Jung; Kathrin Schönherr; Monika Joerg-Streller; Simone Luttat; Sabine Matzgen; Tina Winkler; Stefanie Rosenbaum-Fabian; Oxana Joos; Skadi Beblo

doi:10.1186/s13023-021-02108-5

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy

Orphanet J Rare Dis. 2021 Nov 18;16(1):477. doi: 10.1186/s13023-021-02108-5.

Authors

Carmen Rohde¹, Alena Gerlinde Thiele², Christoph Baerwald³, Rudolf Georg Ascherl², Dinah Lier⁴, Ulrike Och⁵, Christina Heller⁶, Alexandra Jung⁷, Kathrin Schönherr⁸, Monika Joerg-Streller⁹, Simone Luttat¹⁰, Sabine Matzgen¹¹, Tina Winkler¹², Stefanie Rosenbaum-Fabian¹³, Oxana Joos¹⁴, Skadi Beblo²

Affiliations

¹ Hospital for Children and Adolescents, Centre for Pediatric Research Leipzig (CPL), Department of Women and Child Health, University Hospital, University of Leipzig, Leipzig, Germany. Carmen.Rohde@medizin.uni-leipzig.de.
² Hospital for Children and Adolescents, Centre for Pediatric Research Leipzig (CPL), Department of Women and Child Health, University Hospital, University of Leipzig, Leipzig, Germany.
³ University Hospital Internal Medicine, University of Leipzig, Leipzig, Germany.
⁴ Department of Pediatrics, Klinikum Am Steinenberg, Reutlingen, Germany.
⁵ Pediatrics Department of the University Clinic, Münster, Germany.
⁶ Department for Inborn Metabolic Diseases, Children's and Adolescents' Hospital, University of Erlangen-Nürnberg, Erlangen, Germany.
⁷ Center of Excellence for Rare Metabolic Diseases, Charité, University Medicin, Berlin, Germany.
⁸ Centre for Inborn Metabolic Disorders, Department of Neuropediatrics, Jena University Hospital, Jena, Germany.
⁹ Clinic for Pediatrics, Inherited Metabolic Disorders, Medical University Innsbruck, Innsbruck, Austria.
¹⁰ Clinic for Pediatrics, University Magdeburg, Magdeburg, Germany.
¹¹ Department for General Pediatrics, Metabolic Unit, University Clinic of the the Justus Liebig University, Giessen, Germany.
¹² Klinikum Cottbus, Cottbus, Germany.
¹³ Center of Pediatrics and Adolescent Medicine, University Hospital, Freiburg, Germany.
¹⁴ University Hospital, Greifswald, Germany.

Abstract

Background: Insufficient metabolic control during pregnancy of mothers with phenylketonuria (PKU) leads to maternal PKU syndrome, a severe embryo-/fetopathy. Since maintaining or reintroducing the strict phenylalanine (Phe) limited diet in adults with PKU is challenging, we evaluated the most important dietary and psychosocial factors to gain and sustain good metabolic control in phenylketonuric women throughout pregnancy by a questionnaire survey with 38 questions concerning therapy feasibility. Among them, the key questions covered 5 essential items of PKU care as follows: General information about maternal PKU, PKU training, diet implementation, individual metabolic care, personal support. In addition, all participating PKU mothers were asked to estimate the quality of their personal metabolic control of the concluded pregnancies. 54 PKU mothers with 81 pregnancies were approached at 12 metabolic centers in Germany and Austria were included. According to metabolic control, pregnancies of PKU women were divided in two groups: group "ideal" (not more than 5% of all blood Phe concentrations during pregnancy > 360 µmol/l; n = 23) and group "suboptimal" (all others; n = 51).

Results: The demand for support was equally distributed among groups, concerning both amount and content. Personal support by the direct social environment (partner, family and friends) ("suboptimal" 71% vs "ideal" 78%) as well as individual metabolic care by the specialized metabolic center (both groups around 60%) were rated as most important factors. The groups differed significantly with respect to the estimation of the quality of their metabolic situation (p < 0.001). Group "ideal" presented a 100% realistic self-assessment. In contrast, group "suboptimal" overestimated their metabolic control in 53% of the pregnancies. Offspring of group "suboptimal" showed clinical signs of maternal PKU-syndrome in 27%.

Conclusion: The development of training programs by specialized metabolic centers for females with PKU in child bearing age is crucial, especially since those mothers at risk of giving birth to a child with maternal PKU syndrome are not aware of their suboptimal metabolic control. Such programs should provide specific awareness training for the own metabolic situation and should include partners and families.

Keywords: Maternal PKU; Maternal PKU syndrome; PKU; Phenylketonuria; Pregnancy; Training program; mPKU.

MeSH terms

Adult
Austria
Female
Germany
Humans
Phenylalanine
Phenylketonuria, Maternal* / diagnosis
Phenylketonurias*
Pregnancy
Syndrome

Substances

Phenylalanine