Abstract |
α- Mannosidosis, OMIM #248500, is an autosomal recessive lysosomal storage disease caused by acidic α- mannosidase deficiency. Treatment options include bone marrow transplantation (BMT) and, possibly in the future, enzyme replacement therapy. Brain magnetic resonance spectroscopy (MRS) enables non-invasive monitoring of cerebral treatment effect. Accumulated cerebral mannose-containing oligosaccharides were demonstrated by MRS in a patient who at age 2 years and 11 months received a BMT from a haploidentical non-carrier sibling. The cerebral mannose-containing oligosaccharides had disappeared as early as 9½ months after BMT. MRS furthermore demonstrated the persistent treatment effect at regular intervals up to 5½ years after BMT. MRS is a non-invasive tool that can demonstrate the effect of BMT treatment. Likewise, MRS may be used to demonstrate the cerebral effect of other potential treatments such as enzyme replacement therapy.
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Authors | Else R Danielsen, Allan M Lund, Carsten Thomsen |
Journal | JIMD reports
(JIMD Rep)
Vol. 11
Pg. 49-52
( 2013)
ISSN: 2192-8304 [Print] United States |
PMID | 23613340
(Publication Type: Journal Article)
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