title: Pyruvate metabolism in Lafora disease.
abstract: Lafora disease is an autosomal recessive and progressive degenerative disorder of the central nervous system (CNS). The pathogenic mechanism has been presumed to be an inborn error of carbohydrate metabolism, although this has never been proved. In a case of proven Lafora disease, pyruvate metabolism, which has a central position in carbohydrate metabolism, was studied in body fluids under various conditions and in brain biopsy material. No abnormalities in this metabolic pathway were found. This finding plus earlier reports in the literature exclude a defect in glycolysis; thus, a disturbance of carbohydrate metabolism as the pathogenic mechanism of Lafora disease is unlikely.
authors.affiliation: Institute of Neurology, University Hospital Nijmegen, The Netherlands.
authors.forename: H L
authors.initials: HL
authors.lastname: Busard
authors.forename: W O
authors.initials: WO
authors.lastname: Renier
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: J M
authors.initials: JM
authors.lastname: Trijbels
authors.forename: A J
authors.initials: AJ
authors.lastname: Janssen
authors.forename: K J
authors.initials: KJ
authors.lastname: Lamers
mesh_terms: D000293:Adolescent; D002540:Cerebral Cortex / Q000378:metabolism; D002555:Cerebrospinal Fluid / Q000378:metabolism; D004831:Epilepsies, Myoclonic / Q000097:blood / Q000378:metabolism* / Q000652:urine; D005260:Female; D006801:Humans; D010084:Oxidation-Reduction; D011773:Pyruvates / Q000097:blood / Q000378:metabolism* / Q000652:urine; D019289:Pyruvic Acid
chemical_list: D011773:Pyruvates; D019289:Pyruvic Acid