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Beta-mannosidosis is a glycoprotein storage disorder caused by a deficiency of the beta-mannosidase enzyme.
Individuals with beta-mannosidosis do not usually display the typical characteristics of
lysosomal storage diseases such as coarse
facial features, corneal changes, skeletal changes or hepatosplenomegaly. The most consistent features of beta mannosidosis are mental retardation, history of recurrent respiratory infections and hearing loss. Some individuals may present with angiokeratomas.
Individuals with beta-mannosidosis may have an abnormal pattern of urine oligosaccharide excretion. Confirmation of diagnosis is made by measurement of beta-mannosidase enzyme activity directly.
Seattle Children’s provides healthcare for the special needs of children regardless
of race, sex, creed, ethnicity or disability. Financial assistance for medically
necessary services is based on family income and hospital resources and is provided
to children under age 21 whose primary residence is in Washington, Alaska, Montana
Seattle Children’s Hospital, Research