Disease management

Diagnostic Pathway

A diagnosis of Alpha Mannosidosis is suspected based upon identification of characteristic findings of a multi-symptomatic presentation, a thorough clinical evaluation, a detailed patient history, and results from the diagnostic tests described below:

Oligosaccharides in urine

A preliminary investigation may be run by measuring mannose-rich oligosaccharide concentrations in urine. Elevated urinary secretion of mannose-rich oligosaccharides is suggestive, but not diagnostic.1

Acid alpha-mannosidase activity

Diagnosis is confirmed by measuring residual alpha-mannosidase activity in leukocytes of other nucleated cells via a fluorometric assay.2 This is the most reliable diagnostic method, along with genetic testing.

Genetic testing

Identification of disease-causing mutations is carried out on DNA from peripheral blood cells, by polymerase chain reaction (PCR) amplification of all 24 MAN2B1 exons, followed by DNA sequencing.3


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