Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI

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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
Early online date28-Nov-2017
DOIs
Publication statusPublished - May-2018

Keywords

  • Journal Article
  • cPMP
  • prenatal Magnetic Resonance Imaging
  • Molybdenum cofactor deficiency type A
  • MoCD-A
  • Cyclic pyranopterin mono-phosphate

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