title: Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.
abstract: Succinylpurines accumulate in the body fluids of patients with adenylosuccinate lyase (ADSL) deficiency but their source in the cerebrospinal fluid remains obscure. Study based on the incorporation of 13C-stable isotope-labeled glycine into cultured oligodendroglia from ADSL-deficient patient and the measurement of labeled products by LC/MS/MS showed total intracellular concentrations of succinylpurines from 45 to 99μmol/l and so these results suggest that these cells can be the source of the compounds in vivo.
authors.affiliation: Laboratory for Inherited Metabolic Disorders, University Hospital and Medical Faculty, Palacký University, I.P. Pavlova 6, 775 20 Olomouc, Czech Republic.
authors.forename: L
authors.initials: L
authors.lastname: Zídková
authors.forename: J
authors.initials: J
authors.lastname: Krijt
authors.forename: J
authors.initials: J
authors.lastname: Sládková
authors.forename: A
authors.initials: A
authors.lastname: Hlobilková
authors.forename: M
authors.initials: M
authors.lastname: Magner
authors.forename: M
authors.initials: M
authors.lastname: Zikánová
authors.forename: S
authors.initials: S
authors.lastname: Kmoch
authors.forename: D
authors.initials: D
authors.lastname: Friedecký
authors.forename: J
authors.initials: J
authors.lastname: Zeman
authors.forename: M
authors.initials: M
authors.lastname: Elleder
authors.forename: T
authors.initials: T
authors.lastname: Adam
mesh_terms: D000249:Adenosine Monophosphate / Q000031:analogs & derivatives* / Q000096:biosynthesis; D000264:Adenylosuccinate Lyase / Q000172:deficiency*; D000620:Aminoimidazole Carboxamide / Q000031:analogs & derivatives*; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009836:Oligodendroglia / Q000378:metabolism*; D012263:Ribonucleosides / Q000096:biosynthesis*
chemical_list: D012263:Ribonucleosides; C555363:succinyladenosine monophosphate; C043566:succinylaminoimidazole carboxamide riboside; D000620:Aminoimidazole Carboxamide; D000249:Adenosine Monophosphate; D000264:Adenylosuccinate Lyase