Neurometabolic Disorders and Magnetic Resonance Imaging

Neurometabolic disorders comprise a diverse group of inherited conditions in which enzymatic defects disrupt cerebral energy metabolism, leading to accumulation or deficiency of specific metabolites. Clinical presentations often include developmental delay, movement disorders, seizures and progressive neurological decline. Magnetic resonance imaging (MRI) has emerged as an indispensable tool in the diagnosis and monitoring of these conditions. Conventional sequences such as T1- and T2-weighted imaging and fluid-attenuated inversion recovery (FLAIR) allow visualisation of structural abnormalities, including white matter hyperintensities, basal ganglia alterations and cerebellar atrophy. Advanced techniques, notably magnetic resonance spectroscopy (MRS), diffusion-weighted imaging (DWI) and quantitative relaxometry, provide metabolic and microstructural information by measuring concentrations of lactate, N-acetylaspartate and other key metabolites, as well as diffusivity indices. Pattern recognition of signal changes across specific regions of interest can narrow differential diagnosis and guide genetic testing. Longitudinal imaging enables assessment of disease progression and therapeutic response, while quantitative biomarkers derived from MRI are increasingly used in clinical trials. The global significance of MRI in neurometabolic disorders lies in its non-invasive character, broad availability and capacity to integrate morphological, functional and biochemical insights, thereby fostering early intervention and personalised management.

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Neurometabolic Disorders and Magnetic Resonance Imaging publication trend

The graph below shows the total number of articles in neurometabolic disorders and magnetic resonance imaging across all publications each year (not limited to Nature Index journals).

Technical terms

Neurometabolic disorder: Inherited condition affecting the brain’s metabolic pathways, leading to accumulation or deficiency of specific metabolites.

Magnetic resonance imaging (MRI): Non-invasive imaging modality using magnetic fields and radiofrequency pulses to generate detailed images of soft tissues.

T2-weighted imaging: MRI sequence in which fluid appears bright, useful for detecting oedema and white matter lesions.

White matter hyperintensity: Areas of increased signal on T2-weighted or FLAIR images indicating demyelination, gliosis or oedema.

Leukoaraiosis: Radiological term for diffuse white matter rarefaction seen as hypodense areas on CT and hyperintense regions on T2-weighted MRI.

References

1. Cerebral Neoplasms in L-2 Hydroxyglutaric Aciduria: 3 New Cases and Meta-Analysis of Literature Data. American Journal of Neuroradiology (2012).
2. L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine. Tremor and Other Hyperkinetic Movements (2024).
3. Classificação das doenças neurometabólicas hereditárias baseada em aspectos radiológicos: ensaio iconográfico. Radiologia Brasileira (2022).