Neuroimaging Findings of Organic Acidemias and Aminoacidopathies

Radiographics : a Review Publication of the Radiological Society of North America, Inc
Nihaal ReddyBruno P Soares

Abstract

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 from other more common diseases with similar ma...Continue Reading

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Citations

Aug 8, 2019·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Sinéad Culleton, Ata Siddiqui
Aug 27, 2019·Journal of Clinical Imaging Science·Karthik MuthusamySridhar Gibikote
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Jun 8, 2021·Indian Journal of Pediatrics·Umamaheswari Balakrishnan
Aug 26, 2021·Molecular Genetics & Genomic Medicine·Montaser M MohamedHany M Abo-Haded

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