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

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 journal › Article › Academic › peer-review

4 Citations (Scopus)

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 language	English
Pages (from-to)	536-540
Number of pages	5
Journal	European Journal of Paediatric Neurology
Volume	22
Issue number	3
Early online date	28-Nov-2017
DOIs	https://doi.org/10.1016/j.ejpn.2017.11.006
Publication status	Published - May-2018

Keywords

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

Access to Document

10.1016/j.ejpn.2017.11.006

Embargoed Document

Molybdenum cofactor deficiency type A
Final publisher's version, 0.98 MB

Cite this

@article{9dcb7cb5b850405fa021ae63147f6092,

title = "Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI",

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

author = "Lubout, {Charlotte M A} and Derks, {Terry G J} and Linda Meiners and Erwich, {Jan Jaap} and Bergman, {Klasien A} and Lunsing, {Roelineke J} and Guenter Schwarz and Alex Veldman and {van Spronsen}, {Francjan J}",

year = "2018",

month = may,

doi = "10.1016/j.ejpn.2017.11.006",

language = "English",

volume = "22",

pages = "536--540",

journal = "European Journal of Paediatric Neurology",

issn = "1090-3798",

publisher = "ELSEVIER SCI LTD",

number = "3",

}

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, 05.2018, p. 536-540.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Molybdenum cofactor deficiency type A

T2 - Prenatal monitoring using MRI

AU - Lubout, Charlotte M A

AU - Derks, Terry G J

AU - Meiners, Linda

AU - Erwich, Jan Jaap

AU - Bergman, Klasien A

AU - Lunsing, Roelineke J

AU - Schwarz, Guenter

AU - Veldman, Alex

AU - van Spronsen, Francjan J

PY - 2018/5

Y1 - 2018/5

N2 - 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.

AB - 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.

KW - Journal Article

KW - cPMP

KW - prenatal Magnetic Resonance Imaging

KW - Molybdenum cofactor deficiency type A

KW - MoCD-A

KW - Cyclic pyranopterin mono-phosphate

U2 - 10.1016/j.ejpn.2017.11.006

DO - 10.1016/j.ejpn.2017.11.006

M3 - Article

C2 - 29274890

VL - 22

SP - 536

EP - 540

JO - European Journal of Paediatric Neurology

JF - European Journal of Paediatric Neurology

SN - 1090-3798

IS - 3

ER -