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Brain Magnetic Resonance Imaging of Children With Molybdenum Cofactor Deficiency.

B C Schwahn1,2, R Sinha3, J A M Wright4

  • 1Willink Metabolic Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.

Journal of Inherited Metabolic Disease
|August 31, 2025
PubMed
Summary
This summary is machine-generated.

Molybdenum cofactor deficiency (MoCD) in newborns presents unique brain MRI findings distinct from hypoxic ischemic encephalopathy (HIE). Early white matter edema may indicate reversible injury, while restricted diffusion suggests irreversible damage.

Keywords:
MRIbrain imagingcyclic pyranopterin monophosphateexcitotoxicityhypoxic ischemic encephalopathymolybdenum cofactor deficiency

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Area of Science:

  • Neurology
  • Radiology
  • Biochemistry

Background:

  • Molybdenum cofactor deficiency (MoCD) is a rare condition mimicking neonatal hypoxic ischemic encephalopathy (HIE).
  • The neuroimaging characteristics and temporospatial evolution of brain MRI findings in MoCD are not well-documented.
  • Understanding these patterns is crucial for accurate diagnosis and prognosis.

Purpose of the Study:

  • To systematically evaluate brain MRI findings in neonatal MoCD.
  • To characterize acute and chronic brain abnormalities due to sulfite toxicity.
  • To assess treatment response to 4-phenylbutyrate (cPMP) in MoCD type A.

Main Methods:

  • Retrospective analysis of 35 brain MRI scans from 13 neonates with MoCD (7 type A, 6 type B).
  • Evaluation of MRI features associated with sulfite accumulation.
  • Longitudinal assessment of treatment effects in 6 MoCD type A patients receiving cPMP.

Main Results:

  • A distinct pattern of acute and chronic brain injury in MoCD, differing from HIE.
  • White matter edema identified as an early, potentially reversible sign of sulfite toxicity.
  • Restricted diffusion indicates irreversible brain injury and poor prognosis, regardless of cPMP treatment.

Conclusions:

  • Neuroimaging reveals specific diagnostic and prognostic markers for MoCD.
  • MRI findings can guide treatment decisions and evaluate therapeutic efficacy.
  • This study provides the largest neuroimaging dataset and first longitudinal MRI analysis for MoCD.