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.
Marsden
D L
DL
Department of Pediatrics, School of Medicine, University of California, La Jolla.
Nyhan
W L
WL
D000138:Acidosis / Q000235:genetics*; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D001786:Blood Glucose / Q000378:metabolism; D001928:Brain Diseases, Metabolic / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D044943:Fatty Acid Desaturases / Q000172:deficiency; D005227:Fatty Acids / Q000097:blood; D006801:Humans; D007223:Infant; D007657:Ketone Bodies / Q000097:blood; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000235:genetics*
D001786:Blood Glucose; D005227:Fatty Acids; D007657:Ketone Bodies; D044943:Fatty Acid Desaturases; D044942:Acyl-CoA Dehydrogenase, Long-Chain