脑脊液 N-乙酰天门冬氨酸谷氨酸升高与游离唾液酸贮积病。
Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases.
机构信息
INSERM UMR S975, Hôpital de La Salpêtrière, Paris, France.
出版信息
Neurology. 2010 Jan 26;74(4):302-5. doi: 10.1212/WNL.0b013e3181cbcdc4.
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 acid storage disorder and facilitates the identification of the underlying genetic defect. Because increase of N-acetylaspartylglutamate in CSF has been observed in other hypomyelinating disorders, it can be viewed as a marker of a subgroup of hypomyelinating disorders.
目的
利用体外（1）H-NMR 光谱（H-NMRS）研究未确诊的白质营养不良患者的体液。
方法
我们采用高分辨率体外 H-NMRS 对 CSF 和尿液样本进行了横断面研究。
结果
我们发现，6 例病因不明的低髓鞘化患者的 CSF 或尿液中游离唾液酸显著升高。分子遗传学检测显示，所有 6 例患者的 SLC17A5 基因均存在致病性突变。H-NMRS 显示所有 SLC17A5 突变患者的 CSF 中 N-乙酰天门冬氨酸谷氨酸增加（范围 13-114 μmol/L，参考值 <12 μmol/L）。
结论
在未确诊的白质营养不良患者中，CSF 或尿液中游离唾液酸的增加是游离唾液酸贮积症的标志物，有助于确定潜在的遗传缺陷。由于 CSF 中 N-乙酰天门冬氨酸谷氨酸的增加也见于其他低髓鞘化疾病，因此它可以被视为低髓鞘化疾病亚组的标志物。
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