Characteristics of Alpha-Mannosidosis1

immuno deficiency

immune deficiency

distinctive facial features

facial and skeletal abnormalities

hearing impairment

hearing impairment

mental retardation

intellectual disability 

About Alpha-Mannosidosis

Alpha-Mannosidosis is a rare Lysosomal Storage Disease (LSD) caused by mutations affecting the alpha-mannosidase lysosomal enzyme. This enzyme is an exoglycosidase…
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Symptoms & diagnosis

Signs and symptoms vary amongst people who have the condition. In general, affected individuals may have intellectual disability, distinctive facial features…
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A diagnosis of Alpha-Mannosidosis is suspected based upon identification of characteristic findings of a multi-symptomatic presentation, a thorough clinical evaluation…
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Disease management

There is currently no cure for Alpha-Mannosidosis, and treatment is often limited to addressing or controlling symptoms.2
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