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

doi:10.1016/j.ejpn.2017.11.006

Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI

Eur J Paediatr Neurol. 2018 May;22(3):536-540. doi: 10.1016/j.ejpn.2017.11.006. Epub 2017 Nov 28.

Authors

Charlotte M A Lubout¹, Terry G J Derks¹, Linda Meiners², Jan Jaap Erwich³, Klasien A Bergman⁴, Roelineke J Lunsing⁵, Guenter Schwarz⁶, Alex Veldman⁷, Francjan J van Spronsen⁸

Affiliations

¹ Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands.
² Division of Radiology, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands.
³ Division of Obstetrics, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands.
⁴ Division of Neonatology, Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands.
⁵ Department of Child Neurology, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands.
⁶ Institute of Biochemistry, Department of Chemistry & Centre for Molecular Medicine, University of Cologne, Zülpicher Str. 47, 50674 Cologne, Germany.
⁷ Monash Newborn, Monash Medical Centre, Monash University, 246 Clayton Rd, Clayton, Melbourne 3168, Australia; The Ritchie Centre, Hudson Institute of Medical Research, Monash University, 246 Clayton Rd, Clayton, Melbourne 3168, Australia; The Department of Pediatrics, Monash University, 246 Clayton Rd, Clayton, Melbourne 3168, Australia.
⁸ Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands. Electronic address: [email protected].

PMID: 29274890
DOI: 10.1016/j.ejpn.2017.11.006

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.

Keywords: Cyclic pyranopterin monophosphate; MoCD-A; Molybdenum cofactor deficiency type A; cPMP; prenatal Magnetic Resonance Imaging.

Publication types

Case Reports

MeSH terms

Brain / diagnostic imaging*
Brain / pathology
Female
Humans
Magnetic Resonance Imaging / methods*
Metal Metabolism, Inborn Errors / diagnostic imaging*
Metal Metabolism, Inborn Errors / pathology
Pregnancy
Prenatal Diagnosis / methods*

Supplementary concepts

Molybdenum cofactor deficiency