Article Text

other Versions

PDF
Prenatal Benzoate Treatment in Urea Cycle Defects
  1. Anibh M Das (das.anibh{at}mh-hannover.de)
  1. Dept. Paediatrics, Hannover Medical School, Germany
    1. Sabine Illsinger (illsinger.sabine{at}mh-hannover.de)
    1. Dept. Paediatrics, Hnnover Medical School, Germany
      1. Hans Hartmann (hartmann.hans{at}mh-hannover.de)
      1. Dept. Paediatrics, Hannover Medical School, Germany
        1. Katrin Oehler (oehler.katrin{at}mh-hannover.de)
        1. Dept. Gynaecology, Hannover Medical School, Germany
          1. Bettina Bohnhorst (bohnhorst.bettina{at}mh-hannover.de)
          1. Dept. Paediatrics, Hannover Medical School, Germany
            1. Nikolaus Kuehn-Velten (nikolaus.kuehn-velten{at}mlhb.de)
            1. Medical Laboratory Bremen, Germany
              1. Thomas Luecke (luecke.thomas{at}mh-hannover.de)
              1. Dept. Paediatrics, Hannover Medical School, Germany

                Abstract

                Objective: In patients with severe urea cycle defects (UCD) metabolic decompensation with hyperammonaemia typically occurs during the first days of life resulting in severe neurological damage or death. Benzoate can eliminate nitrogen independent of the urea cycle. Usually, benzoate is started soon after birth, but prenatal administration might improve metabolic stability.

                Design: Two fetuses with prenatal diagnosis of UCD (female citrullinaemia, male OTC-deficiency) were loaded with benzoate prenatally via the placenta by infusing the mothers with benzoate. Benzoate-concentrations were measured in umbilical cord blood and blood of mothers and newborns.

                Results: Therapeutic concentrations of benzoate were found in umbilical cord blood and in the children’s blood. Thus, benzoate transfer across the placenta was demonstrated. Plasma ammonia and glutamine levels in the postnatal period were within the normal range.

                Conclusions: Benzoate infusion of the mother shortly before birth is safe and leads to therapeutic levels of benzoate in umbilical cord blood.

                Statistics from Altmetric.com

                Request permissions

                If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.