beta-mannosidosis

info · Genetic

A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.

Signs and symptoms

Decreased circulating beta-mannosidase activity
Hyperactivity
Intellectual disability
Reduced tissue beta-mannosidase activity
Angiokeratoma
Hearing impairment
Abnormal speech pattern
Hypotonia
Generalized hypotonia
Increased urinary disaccharide excretion

Also known as: Beta-D-mannosidosis; beta-mannosidase deficiency; lysosomal beta-mannosidase deficiency