Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP

L Zídková; J Krijt; J Sládková; A Hlobilková; M Magner; M Zikánová; S Kmoch; D Friedecký; J Zeman; M Elleder; T Adam

doi:10.1016/j.ymgme.2010.06.014

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP

Mol Genet Metab. 2010 Oct-Nov;101(2-3):286-8. doi: 10.1016/j.ymgme.2010.06.014. Epub 2010 Jun 25.

Authors

L Zídková¹, J Krijt, J Sládková, A Hlobilková, M Magner, M Zikánová, S Kmoch, D Friedecký, J Zeman, M Elleder, T Adam

Affiliation

¹ Laboratory for Inherited Metabolic Disorders, University Hospital and Medical Faculty, Palacký University, I.P. Pavlova 6, 775 20 Olomouc, Czech Republic.

PMID: 20674424
DOI: 10.1016/j.ymgme.2010.06.014

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adenosine Monophosphate / analogs & derivatives*
Adenosine Monophosphate / biosynthesis
Adenylosuccinate Lyase / deficiency*
Aminoimidazole Carboxamide / analogs & derivatives*
Fatal Outcome
Humans
Infant, Newborn
Male
Oligodendroglia / metabolism*
Ribonucleosides / biosynthesis*

Substances

Ribonucleosides
succinyladenosine monophosphate
succinylaminoimidazole carboxamide riboside
Aminoimidazole Carboxamide
Adenosine Monophosphate
Adenylosuccinate Lyase