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Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia – and review of the literature

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Abstract

Pregnancy, delivery, and postpartal metabolic control was monitored biochemically in five patients (22–38 years of age) with clinically, enzymatically, and genotypically established classical galactosaemia and good dietary compliance. Three of the patients performed breast feeding of their newborns. Monitoring parameters were galactose-1-phosphate and galactitol concentrations in erythrocytes and urinary excretion of galactose, galactitol, galactonate, and lactose. During pregnancy, a small but steady increase of renal metabolite excretion rates was observed. After delivery, a moderate transient increase of metabolite concentrations with peak values within the first week post partum occurred, irrespective of breast feeding. Altogether, there was no evidence for clinically or subclinically significant changes of metabolic control during pregnancy, delivery, or lactation. In conclusion, a specific metabolic monitoring is apparently not required in pregnant galactosemic women, and breast feeding of the nongalactosemic offspring can be recommended.

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Abbreviations

Gal-1-P:

Galactose-1-phosphate

GALT:

Galactose-1-phosphate uridyltransferase

RBC:

Red blood cells

SID GC-MS:

Stable-isotope dilution gas chromatography-mass spectrometry

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Acknowledgements

We gratefully acknowledge the participation of the patients in this study. We owe special thanks to M. Mansion and P. Breidenbach for organizing sample transport and assistance with the analyses. We are grateful to the colleagues G. Aumer, Bamberg, and G. Paas, Viersen, Germany, for cooperation and provision of supplementary information.

This work was supported in part by a grant from the Deutsche Forschungsgemeinschaft and by cooperation of the Elterninitiative Galaktosämie e.V.

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Authors and Affiliations

  1. German Diabetic Centre, Department of Clinical Biochemistry and Pathobiochemistry, UKD, University of Düsseldorf, Düsseldorf, Germany

    Peter Schadewaldt, Hans-Werner Hammen & Loganathan Kamalanathan

  2. Department of General Pediatrics, UKD, University of Düsseldorf, Düsseldorf, Germany

    Hans-Werner Hammen, Loganathan Kamalanathan & Udo Wendel

  3. Department of Gastroenterology, UKD, University of Düsseldorf, Düsseldorf, Germany

    Martin Schwarz

  4. Department of Pediatrics, AMC, University of Amsterdam, Amsterdam, The Netherlands

    Annet M. Bosch

  5. Catharina-Ziekenhuis, Eindhoven, The Netherlands

    Nele Guion

  6. Department of General Internal Medicine, UMC St. Radboud, University of Nijmegen, Nijmegen, The Netherlands

    Mirian Janssen & Godfried H. J. Boers

  7. Klinische Biochemie und Pathobiochemie, DDZ an der Heinrich-Heine Universität Düsseldorf, Auf’m Hennekamp 65, 40225, Düsseldorf, Germany

    Peter Schadewaldt

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  1. Peter Schadewaldt
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Correspondence to Peter Schadewaldt.

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Schadewaldt, P., Hammen, HW., Kamalanathan, L. et al. Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia – and review of the literature. Eur J Pediatr 168, 721–729 (2009). https://doi.org/10.1007/s00431-008-0832-9

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  • DOI: https://doi.org/10.1007/s00431-008-0832-9

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