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Alpha-mannosidosis is challenging to identify, and delays in diagnosis are common2

Alpha-mannosidosis should be considered in the differential diagnosis of individuals with an MPS-like phenotype3

A genetic study of 1,010 individuals with a mucopolysaccharidosis (MPS)-like phenotype found a higher-than-expected number of alpha-mannosidosis cases. Of all studied individuals, 4 were genetically confirmed to have alpha-mannosidosis—all of whom would have likely been missed by traditional screening methods.3

Types of alpha-mannosidosis4

Type 1
Mild Form

Typically recognized after 10 years of age.

Notable features:

  • Lack of skeletal abnormalities
  • Very slow progression
Type 2

The most common form, typically recognized before 10 years of age.

Notable features:

  • Skeletal abnormalities
  • Development of ataxia between ages 20-30
  • Slow progression
Type 3

Typically recognized at birth or soon after.

Notable features:

  • Skeletal abnormalities
  • Often leads to early death due to central nervous system (CNS) involvement or myopathy
  • Obvious progression

For patients suspected of MPS but with a negative MPS test result, testing for alpha-mannosidosis is strongly recommended.3

In 2019, an international working group of experts developed an algorithm outlining diagnostic criteria for patients ≤10 years of age and patients >10 years of age.2

Patients ≤10 years of age2

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Patients >10 years of age2

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Adapted from Guffon N, et al, Mol Genet Metab, 2019.2

Identifying alpha-mannosidosis early allows you to start treatment early.2