title: Giant axonal degeneration: determination of essential glycolytic enzymes.
abstract: Aggregation and accumulation of intermediate filaments (IF) in different cell types is an ultrastructural hallmark of autosomal recessively inherited giant axonal degeneration (GAD) as well as of experimentally induced or occupationally acquired toxic polyneuropathies. Insufficient glycolysis caused by glycolytic enzyme deficiencies has been proposed as a likely cause of the IF accumulation. In this report data are presented on essential glycolytic enzymes in erythrocytes of a GAD patient and family. No significant changes were noted.
authors.affiliation: Medisch Spectrum Twente, Enschede, The Netherlands.
authors.forename: J
authors.initials: J
authors.lastname: Lycklama à Nijeholt
mesh_terms: D000293:Adolescent; D001284:Atrophy; D001369:Axons / Q000502:physiology*; D001921:Brain / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003241:Consanguinity; D004798:Enzymes / Q000097:blood*; D005808:Genes, Recessive / Q000235:genetics*; D006019:Glycolysis / Q000502:physiology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D011115:Polyneuropathies / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D012183:Retrograde Degeneration / Q000235:genetics* / Q000502:physiology
chemical_list: D004798:Enzymes