Neurological diseases in disorders of organic acids

Organic acidemias remain a significant cause of mortality and morbidity, particularly resulting in neurological sequelae. The rapid recent expansion of technology has resulted in significant advances in the diagnosis of the disorders, but it can still be quite difficult. Recognition of specific features on neuroimaging can complement the biochemical and clinical assessment. Disorders of fatty acid oxidation have recently been recognized. It has become apparent that they occur more frequently and with a much wider clinical and biochemical spectrum than previously thought.