Alpha-mannosidosis

Alpha-mannosidosis is a very rare hereditary lysosomal storage disease (LSD), which begins early in childhood and the symptoms of which may include immunodeficiency, facial anomalies, skeletal changes, deafness and mental retardation. It is caused by a lack of lysosomal α-mannosidase and is characterized by clinical symptoms such as recurrent infections, skeletal and auditory impairments, and progressive mental retardation

Characteristic of LSD is the autosomal recessive inheritance, an early onset, as most children are affected, and the frequent impairment of the brain, which makes the treatment of these diseases more difficult. Often the affected children appear normal at birth, but their condition is worsening.

If left untreated, the LSD usually leads to the death of those affected.