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Brain morphometric analysis in patients with glutaric aciduria type 1.

BingYang Bian1, ChengXiang Liu2, Lei Zhang1

  • 1The First Hospital of Jilin University Department of Radiology, Changchun, Jilin 130021, China; Jilin Provincial International Joint Research Center of Medical Artificial Intelligence, Changchun, Jilin 130021, China.

Molecular Genetics and Metabolism
|February 6, 2025
PubMed
Summary

Glutaric aciduria type 1 (GA-1) causes brain structural changes. Morphometric analysis revealed significant differences in gray matter volume and cortical thickness in GA-1 patients compared to healthy controls.

Keywords:
BrainGlutaric aciduria type 1Morphometric analysisSurface-based morphometryVoxel-based morphometry

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Area of Science:

  • Neuroimaging
  • Neurology
  • Pediatric Disorders

Background:

  • Glutaric aciduria type 1 (GA-1) is a rare genetic disorder.
  • It leads to the accumulation of toxic metabolites, causing neurological damage.
  • Previous studies noted cerebral structural changes, but objective quantification was limited.

Purpose of the Study:

  • To identify specific brain structures affected in GA-1 patients.
  • To quantitatively assess gray matter volume (GMV) and cortical thickness (CT) differences.
  • To explore correlations between neuroanatomy and biochemical markers.

Main Methods:

  • Cross-sectional study comparing 17 GA-1 patients and 17 healthy controls (HCs).
  • Acquired 3D T1-weighted MRI data.
  • Utilized voxel-based and surface-based morphometry to analyze GMV and CT.

Main Results:

  • GA-1 patients showed reduced GMV in basal ganglia, thalamus, limbic system, DMN, and cerebellum.
  • Significant differences in cortical thickness (both reductions and increases) were observed in various cortical regions.
  • Lower GMV in the left inferior temporal gyrus correlated with higher urinary glutaryl-carnitine levels.

Conclusions:

  • Brain morphometry reveals distinct patterns of gray matter and cortical thickness alterations in GA-1.
  • These findings provide quantitative insights into neuroanatomical abnormalities in GA-1.
  • This study contributes to understanding normal and abnormal neuroanatomy in GA-1.