Journal of Inherited Metabolic Disease

, Volume 27, Issue 6, pp 869–876

Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)


    • Department of NeuroradiologyUniversity Hospital Mannheim of the University of Heidelberg
  • I. Harting
    • Department of NeuroradiologyUniversity of Heidelberg Medical School
  • A. Seitz
    • Department of NeuroradiologyUniversity of Heidelberg Medical School
  • C. Ding
    • Department of NeuroradiologyUniversity of Hamburg-Eppendorf
  • S. Kolker
    • University Children's Hospital HeidelbergDepartment of General Pediatrics, Division of Metabolic and Endocrine Diseases

DOI: 10.1023/B:BOLI.0000045771.66300.2a

Cite this article as:
Neumaier-Probst, E., Harting, I., Seitz, A. et al. J Inherit Metab Dis (2004) 27: 869. doi:10.1023/B:BOLI.0000045771.66300.2a


Summary: This article summarizes the magnetic resonance imaging features of glutaric aciduria type I (GA I) based on the cases presented at the 3rd International Workshop on Glutaryl-CoA Dehydrogenase Deficiency together with a review of previously reported neuroimaging characteristics of GA I. Previous reports have focused on characteristic findings, such as basal ganglia injury and frontotemporal atrophy or hypoplasia, subdural effusions and white-matter disease. Most of these findings have been demonstrated in symptomatic children, i.e. after manifestation of acute encephalopathic crises. In contrast, prospective investigations in presymptomatically diagnosed children are rare. Since more recent investigations have highlighted CNS changes in patients without encephalopathic crises, systematic prospective investigations of neuroradiological findings in this disease are indispensable for a better understanding of this disease. Based on these findings a suggestion for a MRI protocol is presented, supporting a standardized evaluation of patients with GA I.

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© Kluwer Academic Publishers 2004