Identifying Alpha Mannosidosis
Alpha Mannosidosis is a rare inherited Lysosomal Storage Disease (LSD) caused by a deficiency in the enzyme alpha-mannosidase.1
Impaired function of alpha-mannosidase causes a block in the degradation of glycoproteins and thereby a progressive lysosomal accumulation of mannose-rich oligosaccharides in all tissues, resulting in impaired cellular function and apoptosis.2
Characteristics of Alpha Mannosidosis3
Depending on the severity of the symptoms, Alpha Mannosidosis has been classified into 3 proposed sub-types:4
A mild form, clinically recognized after ten years of age, with absence of skeletal abnormalities, and very slow progression.
A moderate form, recognized before ten years of age, with presence of skeletal abnormalities, slow progression and development of ataxia at age 20-30. This is the most common form.
A severe form, immediately recognized with skeletal abnormalities, and obvious progression, leading to an early death from primary central nervous system involvement or myopathy.
However, given the variety of mutations that have been documented, and the broad range and severity of symptoms, the disease is considered clinically as a continuum.56
Open References [ + ]
|1.||↑||Beck M Olsen KJ, Wraith JE et al. Natural history of alpha-mannosidosis: a longitudinal study. Orphanet J Rare Dis 2013;8:88|
|2.||↑||Beck M Olsen KJ, Wraith JE et al. Natural history of alpha-mannosidosis: a longitudinal study. Orphanet J Rare Dis 2013;8:88|
|3.||↑||Beck M Olsen KJ, Wraith JE et al. Natural history of alpha-mannosidosis: a longitudinal study. Orphanet J Rare Dis 2013;8:88|
|4.||↑||Malm D & Nilssen ø. Alpha-mannosidosis. Orphanet J Rare Dis 2008;3:21|
|6.||↑||Borgwardt L, Lund AM, Dali CI. Alpha-mannosidosis – a review of genetic, clinical findings and options for treatment. Pediatr Endocrinol Rev 2014;12 Suppl 1:185-91|