Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases.

ABSTRACT:

Objective

To investigate body fluids of patients with undiagnosed leukodystrophies using in vitro (1)H-NMR spectroscopy (H-NMRS).

Methods

We conducted a cross-sectional study using high-resolution in vitro H-NMRS on CSF and urine samples.

Results

We found a significant increase of free sialic acid in CSF or urine in 6 of 41 patients presenting with hypomyelination of unknown etiology. Molecular genetic testing revealed pathogenic mutations in the SLC17A5 gene in all 6 patients. H-NMRS revealed an increase of N-acetylaspartylglutamate in the CSF of all patients with SLC17A5 mutation (range 13-114 micromol/L, reference <12 micromol/L).

Conclusion

In patients with undiagnosed leukodystrophies, increased free sialic acid in CSF or urine is a marker for free sialic

SUBMITTER: Mochel F 

PROVIDER: S-EPMC3122303 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature