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Glutaric aciduria type I: a serious pitfall if diagnosed too late
1Department of Radiology, Klinikum Innenstadt, University of Munich, Ziemssenstrasse 1, D-80 336 Munich, Germany.
European Radiology
|January 1, 1997
Summary
Glutaric aciduria type I (GA I) can cause hydrocephalus and atrophy. MR imaging shows basal ganglia changes, frontotemporal atrophy, and delayed myelination, aiding diagnosis and preventing irreversible brain damage.
Area of Science:
- Pediatric Neurology
- Neuroimaging
- Metabolic Disorders
Background:
- Glutaric aciduria type I (GA I) is a rare inherited metabolic disorder.
- It can lead to severe neurological complications if not diagnosed and treated early.
- MR imaging plays a crucial role in identifying characteristic brain abnormalities.