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German Maternal Phenylketonuria Study

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Abstract

The German maternal phenylketonuria (MPKU) Study began in 1989 and since 1992 works together with the American-Canadian MPKU Study. Main goals of the study are: (1) to find women with phenylketonuria (PKU) and mild untreated hyperphenylalaninaemia (HPA); (2) to inform them about the risks of an untreated pregnancy with PKU and HPA; (3) to evaluate the efficacy of the phenylalanine (Phe) restricted dietary treatment prior to and during pregnancy by following the physical and cognitive development of offspring from treated pregnancies. An interim report of the study is presented. Until now, 43 pregnancies have been followed. They resulted in 34 live births, 24 from women with PKU and 10 from women with HPA. There are significant negative correlations between the gestational age in which the dietary control (blood Phe level <360 µmol/1) was reached and pregnancy outcome as measured by growth parameters and early cognitive and motor developmental quotients at the age of 2 years. For minimizing risks of MPKU, preconceptional dietary control is strongly recommended. Tracking and timely information of young women about risks of MPKU is of outmost importance.

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Abbreviations

HPA :

hyperphenylalaninaemia

MDI :

mental developmental index

MPKU :

maternal phenylketonuria

PDI :

performance developmental index

Phe :

phenylalanine

PKU :

phenylketonuria

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Authors and Affiliations

  1. MPKU Studie, University of Tübingen, Augustastrasse 18, D-69126, Heidelberg, Germany

    S. Cipcic-Schmidt

  2. Children’s Hospital Reutlingen, University of Tübingen, Reutlingen, Germany

    F. K. Trefz

  3. Department of Pediatrics, University of Münster, Münster, Germany

    B. Fünders & K. Ullrich

  4. Children’s Rehabilitation Clinic, Usedom, Germany

    G. Seidlitz

Authors
  1. S. Cipcic-Schmidt
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  2. F. K. Trefz
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  3. B. Fünders
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  4. G. Seidlitz
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  5. K. Ullrich
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Cipcic-Schmidt, S., Trefz, F.K., Fünders, B. et al. German Maternal Phenylketonuria Study. Eur J Pediatr 155 (Suppl 1), S173–S176 (1996). https://doi.org/10.1007/PL00014241

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  • DOI: https://doi.org/10.1007/PL00014241

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