University Hospital of Northern-Norway, Tromso, Norway.
J Inherit Metab Dis. 2011 Oct;34(5):1023-7. doi: 10.1007/s10545-011-9331-7. Epub 2011 May 4.
In Alpha-mannosidosis (MIM 248500) the patients accumulate mainly unbranched oligosaccharide chains in the lysosomes in all body tissues, including the brain. With ensuing therapeutic modalities in man (BMT and ERT) non-invasive methods of monitoring the effect of treatment are needed. Paramount is the possible effect of the treatment on the brain, since this organ is regarded as difficult to reach because of the blood-brain barrier. We therefore performed proton nuclear magnetic resonance spectroscopy (MRS) of the brain in two untreated patients, and a 16-year-old patient treated with BMT at the age of 10 to assess whether this non-invasive method could be applied in the monitoring of the accumulation of abnormal chemicals in the brain of patients. We found an abnormal peak that was not present in the treated patient. A similar pattern was also found in MRS of urine from patients, reflecting the concentration of oligosaccharides in serum and tissues. We therefore conclude that MRS can be a useful method to monitor the effect of treatment for Alpha-Mannosidosis.
在α-甘露糖苷贮积症（MIM 248500）中，患者的溶酶体中积累了主要的无分支寡糖链，存在于所有身体组织中，包括大脑。随着人类治疗方法（BMT 和 ERT）的出现，需要非侵入性的方法来监测治疗效果。最重要的是治疗对大脑的可能影响，因为由于血脑屏障，这个器官被认为难以到达。因此，我们对两名未经治疗的患者和一名 10 岁时接受 BMT 治疗的 16 岁患者的大脑进行了质子磁共振波谱（MRS）检查，以评估这种非侵入性方法是否可用于监测患者大脑中异常化学物质的积累。我们发现了一个异常的峰，在接受治疗的患者中不存在。在患者的尿液 MRS 中也发现了类似的模式，反映了血清和组织中寡糖的浓度。因此，我们得出结论，MRS 可以成为监测α-甘露糖苷贮积症治疗效果的有用方法。
