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

4 Citations (Scopus)


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
Issue number3
Publication statusPublished - 1 May 2018


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

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