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.
Subject(s)
Adenosine Monophosphate/analogs & derivatives , Adenylosuccinate Lyase/deficiency , Aminoimidazole Carboxamide/analogs & derivatives , Oligodendroglia/metabolism , Ribonucleosides/biosynthesis , Adenosine Monophosphate/biosynthesis , Fatal Outcome , Humans , Infant, Newborn , MaleABSTRACT
OBJECTIVE: Review of contemporary knowledge about inherited metabolic disorders in pregnant women and fetuses. DESIGN: A review of literature. SETTING: Laboratory for inherited metabolic disorders, Departament of Clinical Biochemistry and Childern's Clinic, University Hospital and Palacky University, Olomouc. METHOD: Review of literature and publications using medical databases. CONCLUSION: Metabolic examination of mother or child is recommended if any clinical problems during or immediately after pregnancy occur. Nowadays most of inherited errors of metabolism can be diagnosed prenataly in first or second trimester of pregnancy.