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.
Publication types
-
Case Reports
-
Comparative Study
-
Research Support, N.I.H., Intramural
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adolescent
-
Child
-
Diagnosis, Differential
-
Hereditary Central Nervous System Demyelinating Diseases / cerebrospinal fluid
-
Hereditary Central Nervous System Demyelinating Diseases / diagnosis
-
Hereditary Central Nervous System Demyelinating Diseases / genetics
-
Hereditary Central Nervous System Demyelinating Diseases / urine
-
Humans
-
N-Acetylneuraminic Acid / cerebrospinal fluid*
-
N-Acetylneuraminic Acid / genetics
-
N-Acetylneuraminic Acid / urine
-
Nuclear Magnetic Resonance, Biomolecular / methods
-
Organic Anion Transporters / genetics*
-
Sialic Acid Storage Disease / cerebrospinal fluid
-
Sialic Acid Storage Disease / diagnosis
-
Sialic Acid Storage Disease / genetics*
-
Sialic Acid Storage Disease / urine
-
Symporters / genetics*
-
Young Adult
Substances
-
Organic Anion Transporters
-
Symporters
-
sialic acid transport proteins
-
N-Acetylneuraminic Acid