Ontology highlight
ABSTRACT:
SUBMITTER: Mochel F
PROVIDER: S-EPMC3508714 | biostudies-literature | 2009 Jun
REPOSITORIES: biostudies-literature
Mochel Fanny F Yang Bingzhi B Barritault Julie J Thompson Jerry N JN Engelke Udo F H UF McNeill Nathan H NH Benko William S WS Kaneski Christine R CR Adams David R DR Tsokos Maria M Abu-Asab Mones M Huizing Marjan M Seguin Francois F Wevers Ron A RA Ding Jiahuan J Verheijen Frans W FW Schiffmann Raphael R
Annals of neurology 20090601 6
We performed high-resolution in vitro proton nuclear magnetic resonance spectroscopy on cerebrospinal fluid and urine samples of 44 patients with leukodystrophies of unknown cause. Free sialic acid concentration was increased in cerebrospinal fluid of two siblings with mental retardation and mild hypomyelination. By contrast, urinary excretion of free sialic acid in urine was normal on repeated testing by two independent methods. Both patients were homozygous for the K136E mutation in SLC17A5, t ...[more]