The neuropathology of propionic acidemia.
The neuropathology in two biochemically documented cases of propionic acidemia is presented. While spongiform changes in white matter were seen in the infant who died at 12 days, no such changes were evident in an older patient who died at age 23 months. These findings are compared with other aminoacidemias.
D000592:Amino Acid Metabolism, Inborn Errors; D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000097:blood* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000648:ultrastructure; D009474:Neurons / Q000648:ultrastructure; D011422:Propionates / Q000097:blood*
D011422:Propionates; C029658:propionic acid