5 Facts you should know about

Alpha-mannosidosis

Alpha-mannosidosis is a rare lysosomal storage disorder caused by a deficiency in the enzyme alpha-mannosidase, leading to the accumulation of mannose-containing oligosaccharides in tissues

It presents with a spectrum of symptoms including intellectual disability, skeletal abnormalities, hearing loss, facial features alterations, and immune system dysfunction

Diagnosis involves enzyme activity assays, genetic testing, and evaluation of urinary oligosaccharides. Early identification aids in proactive management

Treatment focuses on supportive care, including enzyme replacement therapy and symptomatic management of complications

Alpha-mannosidosis is inherited in an autosomal recessive pattern. Genetic counseling for families is crucial for understanding recurrence risks

See our full disease profile

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