Conditions / Genetic
alpha-mannosidosis
info · Genetic
A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.
Signs and symptoms
- Decreased circulating alpha-mannosidase activity
- Enlarged cisterna magna
- Cerebellar atrophy
- Cerebral cortical atrophy
- Epicanthus
- Femoral bowing
- Gait ataxia
- Hypotonia
- Generalized hypotonia
- Coarse facial features
Medications that may treat it
Also known as: Alpha-D-mannosidosis; alpha-mannosidase deficiency; deficiency of alpha-mannosidase