alpha-cartella

Symptoms & diagnosis

alpha-dottore

Disease management

Mechanism of Disease12

This rare disease was described for the first time by Swedish Physician Okerman in 1967, and is one of a wide range of Lysosomal Storage Disorders, caused by mutations affecting the alpha-mannosidase lysosomal enzyme, resulting in its deficiency. This enzyme is an exoglycosidase, that cleaves α-linked mannose residues of N-linked oligosaccharides.3

If the alpha mannosidase enzyme is impaired, there is a reduction in the degradation of glycoproteins and a progressive accumulation of mannose-rich oligosaccharides in all tissues, leading to impaired cellular function and apoptosis.4

Alpha Mannosidosis is inherited in an autosomal recessive fashion, caused by mutations in the gene MAN2B1, located on chromosome 19. The phenotypic variability is high, even between siblings with identical genotypes5

In addition to genetic factors, environmental factors may influence the disease. For instance, exposure to pathogens may cause recurrent infections and a worsening of disease symptoms.6

IMPACT OF THE DISEASE

DISEASE PROGRESSION & PROGNOSIS

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