Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI

Charlotte M.A. Lubout, Terry G.J. Derks, Linda Meiners, Jan Jaap Erwich, Klasien A. Bergman, Roelineke J. Lunsing, Guenter Schwarz, Alex Veldman, Francjan J. van Spronsen

Research output: Contribution to journalArticleOtherpeer-review

Abstract

Molybdenum cofactor deficiency type A (MoCD-A) is an inborn error of metabolism presenting early after birth with severe seizures. Recently, experimental substitution treatment with cyclic pyranopterin monophosphate (cPMP) has become available. Because prenatal data is scarce, we report data of prenatal Magnetic Resonance Imaging (MRI) in two cases with MoCD-A demonstrating signs of possible early brain injury. Prenatal MRI can be used for monitoring in MoCD-A to guide decision-making in timing of delivery.

Original languageEnglish
Pages (from-to)536-540
Number of pages5
JournalEuropean Journal of Paediatric Neurology
Volume22
Issue number3
DOIs
Publication statusPublished - 1 May 2018

Keywords

  • cPMP
  • Cyclic pyranopterin monophosphate
  • MoCD-A
  • Molybdenum cofactor deficiency type A
  • prenatal Magnetic Resonance Imaging

Cite this

Lubout, C. M. A., Derks, T. G. J., Meiners, L., Erwich, J. J., Bergman, K. A., Lunsing, R. J., ... van Spronsen, F. J. (2018). Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI. European Journal of Paediatric Neurology, 22(3), 536-540. https://doi.org/10.1016/j.ejpn.2017.11.006
Lubout, Charlotte M.A. ; Derks, Terry G.J. ; Meiners, Linda ; Erwich, Jan Jaap ; Bergman, Klasien A. ; Lunsing, Roelineke J. ; Schwarz, Guenter ; Veldman, Alex ; van Spronsen, Francjan J. / Molybdenum cofactor deficiency type A : Prenatal monitoring using MRI. In: European Journal of Paediatric Neurology. 2018 ; Vol. 22, No. 3. pp. 536-540.
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Lubout, CMA, Derks, TGJ, Meiners, L, Erwich, JJ, Bergman, KA, Lunsing, RJ, Schwarz, G, Veldman, A & van Spronsen, FJ 2018, 'Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI' European Journal of Paediatric Neurology, vol. 22, no. 3, pp. 536-540. https://doi.org/10.1016/j.ejpn.2017.11.006

Molybdenum cofactor deficiency type A : Prenatal monitoring using MRI. / Lubout, Charlotte M.A.; Derks, Terry G.J.; Meiners, Linda; Erwich, Jan Jaap; Bergman, Klasien A.; Lunsing, Roelineke J.; Schwarz, Guenter; Veldman, Alex; van Spronsen, Francjan J.

In: European Journal of Paediatric Neurology, Vol. 22, No. 3, 01.05.2018, p. 536-540.

Research output: Contribution to journalArticleOtherpeer-review

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AU - Derks, Terry G.J.

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AU - Erwich, Jan Jaap

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Lubout CMA, Derks TGJ, Meiners L, Erwich JJ, Bergman KA, Lunsing RJ et al. Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI. European Journal of Paediatric Neurology. 2018 May 1;22(3):536-540. https://doi.org/10.1016/j.ejpn.2017.11.006