Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.
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.
Zídková
L
L
Laboratory for Inherited Metabolic Disorders, University Hospital and Medical Faculty, Palacký University, I.P. Pavlova 6, 775 20 Olomouc, Czech Republic.
Krijt
J
J
Sládková
J
J
Hlobilková
A
A
Magner
M
M
Zikánová
M
M
Kmoch
S
S
Friedecký
D
D
Zeman
J
J
Elleder
M
M
Adam
T
T
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*
D012263:Ribonucleosides; C555363:succinyladenosine monophosphate; C043566:succinylaminoimidazole carboxamide riboside; D000620:Aminoimidazole Carboxamide; D000249:Adenosine Monophosphate; D000264:Adenylosuccinate Lyase