Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment.

Abstract

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.

• Authors: Derk Frederik Matthaus Avenarius, John-Sigurd Svendsen, Dag Malm
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 34 Issue 5 Pg. 1023-7 (Oct 2011) ISSN: 1573-2665 [Electronic] United States
• PMID: 21541723 (Publication Type: Case Reports, Evaluation Study, Journal Article)

Chemical References

• Oligosaccharides
• Polysaccharides
• Protons
• oligomannoside

Topics

• Adolescent
• Adult
• Blood-Brain Barrier (chemistry, diagnostic imaging)
• Brain (diagnostic imaging)
• Humans
• Magnetic Resonance Spectroscopy (methods)
• Male
• Monitoring, Physiologic (methods)
• Oligosaccharides (analysis)
• Polysaccharides (analysis)
• Protons
• Radiography
• Urinalysis (methods)
• Young Adult
• alpha-Mannosidosis (diagnostic imaging, pathology, urine)