Eur J Orthop Surg Traumatol
January 2023
Purpose: The radiological examination including plain radiography, CT and MRI are critical to assess the severity of the instability, to diagnose the fracture type and to select the appropriate treatment strategy for the thoracic and lumbar vertebral fractures. The aim of this prospective observational study was to investigate the effect of magnetic resonance imaging (MRI) on decision making for the diagnosis and treatment of acute thoracic and lumbar vertebral fractures.
Methods: Consecutive 180 patients with acute thoracic and/or lumbar vertebral fractures were included in the study.
Glutaric aciduria type I (GA1; OMIM #231670) is an autosomal recessively inherited and treatable disorder characterized by the accumulation and irregular excretion of glutaric acid due to a defect in the glutaryl-CoA dehydrogenase enzyme involved in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. Glutaryl-CoA dehydrogenase is encoded by the GCDH gene (OMIM #608801), and several mutations in this gene are known to result in GA1. GA1 usually presents in the first 18-36 months of life with mild or severe acute encephalopathy, movement disorders, and striatal degeneration.
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