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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 753-757 |
| Number of pages | 5 |
| Journal | Annals of Neurology |
| Volume | 65 |
| Issue number | 6 |
| DOIs | |
| State | Published - Jun 1 2009 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Neurology
- Clinical Neurology
Cite this
Free sialic acid storage disease without sialuria. / Mochel, Fanny; Yang, Bingzhi; Barritault, Julie; Thompson, Jerry N.; Engelke, Udo F.H.; McNeill, Nathan H.; Benko, William; 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.
In: Annals of Neurology, Vol. 65, No. 6, 01.06.2009, p. 753-757.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Free sialic acid storage disease without sialuria
AU - Mochel, Fanny
AU - Yang, Bingzhi
AU - Barritault, Julie
AU - Thompson, Jerry N.
AU - Engelke, Udo F.H.
AU - McNeill, Nathan H.
AU - Benko, William
AU - Kaneski, Christine R.
AU - Adams, David R.
AU - Tsokos, Maria
AU - Abu-Asab, Mones
AU - Huizing, Marjan
AU - Seguin, Francois
AU - Wevers, Ron A.
AU - Ding, Jiahuan
AU - Verheijen, Frans W.
AU - Schiffmann, Raphael
PY - 2009/6/1
Y1 - 2009/6/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=67650070762&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=67650070762&partnerID=8YFLogxK
U2 - 10.1002/ana.21624
DO - 10.1002/ana.21624
M3 - Article
C2 - 19557856
AN - SCOPUS:67650070762
VL - 65
SP - 753
EP - 757
JO - Annals of Neurology
JF - Annals of Neurology
SN - 0364-5134
IS - 6
ER -