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Neuroimaging Findings of Organic Acidemias and Aminoacidopathies by Nihaal Reddy; Sonia F. Calloni; Hilary J. Vernon; Eugen Boltshauser; Thierry A. G. M. Huisman; Bruno P. Soares is a Medicine article available to read on EtoBox.

What is Neuroimaging Findings of Organic Acidemias and Aminoacidopathies about?

Although individual cases of inherited metabolic disorders are rare, overall they account for a substantial number of disorders affecting the central nervous system. Organic acidemias and aminoacidopathies include a variety of inborn errors of metabolism that are caused by defects in the intermediary metabolic pathways of carbohydrates, amino acids, and fatty acid oxidation. These defects can lead to the abnormal accumulation of organic acids and amino acids in multiple organs, including the brain. Early diagnosis is mandatory to initiate therapy and prevent permanent long-term neurologic impairments or death. Neuroimaging findings can be nonspecific, and metabolism-and genetics-based laboratory investigations are needed to confirm the diagnosis. However, neuroimaging has a key role in guiding the diagnostic workup. The findings at conventional and advanced magnetic resonance imaging may suggest the correct diagnosis, help narrow the differential diagnosis, and consequently facilitate early initiation of targeted metabolism-and genetics-based laboratory investigations and treatment. Neuroimaging may be especially helpful for distinguishing organic acidemias and aminoacidopathies fr

Who reads Neuroimaging Findings of Organic Acidemias and Aminoacidopathies?

Author

Nihaal Reddy; Sonia F. Calloni; Hilary J. Vernon; Eugen Boltshauser; Thierry A. G. M. Huisman; Bruno P. Soares

Publisher

Radiological Society of North America (RSNA)

Published

2018

Language

EN

Field

Medicine (Health Sciences)