Abstract
Metabolic disorders are responsible for brain diseases causing abnormal growth and development. They are caused by genetically determined enzymatic defects in the metabolic pathways producing structurally defective protein. Enzymes are contained in the cellular organelles, and metabolic brain diseases can be categorized according to the most frequently involved organelles. The major problem in metabolic brain disease is myelination abnormality. Pathophysiology of myelin abnormality and some basic concepts of metabolic brain diseases will be discussed. The clinical features and imaging findings of the representative cases in more prevalent diseases will be presented according to the organelle dysfunctions and amino acid metabolic defects.
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Kim, IO. (2014). Metabolic Diseases of the Brain. In: Kim, IO. (eds) Radiology Illustrated: Pediatric Radiology. Radiology Illustrated. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35573-8_2
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DOI: https://doi.org/10.1007/978-3-642-35573-8_2
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