cad a22 4500 555301362 20190918054143.0 cr unu---uuuuu 190206s2018 xx s 000 0 eng 10.5167/uzh-162001 doi 10.1148/rg.2018170042 doi (ZORA)oai:www.zora.uzh.ch:162001 610 ddc 29757724 pmid Neuroimaging Findings of Organic Acidemias and Aminoacidopathies [Elektronische Daten] [Nihaal Reddy, Sonia F Calloni, Hilary J Vernon, Eugen Boltshauser, Thierry A G M Huisman, Bruno P Soares] openAccess eu-repo 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 manifestations, such as hypoxic-ischemic injury and neonatal sepsis. Therefore, it is important that radiologists, neuroradiologists, pediatric neuroradiologists, and clinicians are familiar with the neuroimaging findings of organic acidemias and aminoacidopathies. RSNA, 2018. Medical Clinic zora Reddy Nihaal joint author Calloni Sonia F. joint author Vernon Hilary J. joint author Boltshauser Eugen joint author Huisman Thierry A G M. joint author Soares Bruno P. joint author Radiographics 38(3):912-931 https://www.zora.uzh.ch/id/eprint/162001/1/ZORA162001.pdf text/html WWW-Backlink auf das Repository 1 Journal Article PeerReviewed zora ZORA 856 40 https://www.zora.uzh.ch/id/eprint/162001/1/ZORA162001.pdf text/html WWW-Backlink auf das Repository ZORA 700 1- Reddy Nihaal joint author ZORA 700 1- Calloni Sonia F. joint author ZORA 700 1- Vernon Hilary J. joint author ZORA 700 1- Boltshauser Eugen joint author ZORA 700 1- Huisman Thierry A G M. joint author ZORA 700 1- Soares Bruno P. joint author ZORA 773 0- Radiographics 38(3):912-931 BK010053 XK010053 XK010000 ZORA ZORA ZORA Journal Article openAccess