Free sialic acid storage disease without sialuria

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 hy...

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Published in:Annals of neurology 2009-06, Vol.65 (6), p.753-757
Main Authors: Mochel, Fanny, Yang, Bingzhi, Barritault, Julie, Thompson, Jerry N., Engelke, Udo F. H., McNeill, Nathan H., Benko, William S., Kaneski, Christine R., Adams, David R., Tsokos, Maria, Abu-Asab, Mones, Huizing, Marjan, Seguin, Francois, Wevers, Ron A., Ding, Jiahuan, Verheijen, Frans W., Schiffmann, Raphael
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Child
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
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
Medical sciences
N-Acetylneuraminic Acid - cerebrospinal fluid
N-Acetylneuraminic Acid - genetics
N-Acetylneuraminic Acid - urine
Neurology
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
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Summary: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. Ann Neurol 2009;65:753–757
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.21624