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 |
| DOIs | |
| Publication status | Published - 1 May 2018 |
Keywords
- cPMP
- Cyclic pyranopterin monophosphate
- MoCD-A
- Molybdenum cofactor deficiency type A
- prenatal Magnetic Resonance Imaging
Cite this
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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 journal › Article › Other › 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 - 2018/5/1
Y1 - 2018/5/1
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 - cPMP
KW - Cyclic pyranopterin monophosphate
KW - MoCD-A
KW - Molybdenum cofactor deficiency type A
KW - prenatal Magnetic Resonance Imaging
UR - http://www.scopus.com/inward/record.url?scp=85038902984&partnerID=8YFLogxK
U2 - 10.1016/j.ejpn.2017.11.006
DO - 10.1016/j.ejpn.2017.11.006
M3 - Article
VL - 22
SP - 536
EP - 540
JO - European Journal of Paediatric Neurology
JF - European Journal of Paediatric Neurology
SN - 1090-3798
IS - 3
ER -