EC Clinical and Medical Case Reports

Glutaric aciduria type 1 (GA-1) is an autosomal recessive inherited metabolic disorder resulting from a defect in glutaryl-CoA dehydrogenase, rarely asymptomatic, decompensation often occurs in early childhood, marked by dystonia-dyskinesia outcomes. Neuroimaging provides a diagnosis based on well-defined signs, features and provides a non-invasive evaluation of cerebral metabolism using magnetic resonance spectroscopy.

This article aims to highlight the typical radiological characteristics of GA-1 through a clinical case.

 Keywords: Glutaric Aciduria Type 1; Brain Magnetic Resonance Imaging; Spectroscopy

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