Free sialic acid storage disease without sialuria
Year: 2009
Type: article
Study design: Observational Study
Abstract: 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, the gene responsible for the free sialic acid storage diseases. Our findings demonstrate that mutations in the SLC17A5 gene have to be considered in patients with hypomyelination, even in the absence of sialuria.
Source: Annals of Neurology
DOI: 10.1002/ana.21624
Institutions: Inserm, Baylor University Medical Center, Pitié-Salpêtrière Hospital, Université de Poitiers, University of Alabama at Birmingham, Radboud University Nijmegen, Radboud University Medical Center, WellSpan Health, WellSpan York Hospital, National Institutes of Health, National Human Genome Research Institute, National Cancer Institute, Erasmus MC
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2167928665