Petra Oliva, PhD, Archimed Life Science, discusses alpha mannosidosis in patients with mucopolysaccharidosis (MPS)-like phenotypes.
Alpha mannosidosis is a lysosomal storage disorder, characterized by intellectual disability, hearing loss, ataxia, skeletal abnormalities, and coarse facial features. Signs and symptoms vary, but often include:
- Mild to moderate intellectual disability
- Hearing loss
- Weakened immune system
- Distinctive facial features
- Cerebellar disorders (e.g., ataxia)
Symptoms tend to progress over time. Genetic changes in the MAN2B1 gene, which codifies lysosomal alpha-mannosidase, an enzyme involved in the degradation of glycoproteins. The lack or deficiency of this enzyme results in the toxic build-up of sugars in the cells of the body.
A recently reported study investigated the prevalence of alpha mannosidosis in patients with MPS-like phenotypes, but had tested negative for MPS. Through biochemistry screening, four patients were identified out of the 1000 cases studied. The second phase of the study investigated around 4000 patients, with 17 identified cases of alpha mannosidosis following a negative MPS result. These results illustrate the significance of alpha mannosidosis within MPS-like phenotypes.
As Dr Oliva explains, alpha mannosidosis and MPS clinical presentations are similar, therefore making it important for patients to undergo screening in order to receive an accurate and timely diagnosis.
For more information on alpha mannosidosis and other rare lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/
