Symptoms of Alpha-Mannosidosis

Due to the heterogeneity of the disease, the symptoms of Alpha-Mannosidosis may initially be confused with those of other medical conditions.1 Diagnoses are made by doing a urine analysis,2 using blood tests to measure enzyme activity in white blood cells and genetic analyses.2

It’s important to talk to your doctor about all the symptoms you notice in your child, as your doctor may not think about the possibility of Alpha-Mannosidosis. Often, symptoms start with a child feeling weak, getting ear infections, and having issues with developing language skills.3,4

The symptoms of Alpha-Mannosidosis, like other related conditions, are extremely varied. Some people will have mild to moderate learning difficulties that develop in childhood or adolescence,3  while others may have more severe symptoms that develop from a very early age.2,5

The wide range of possible symptoms are presented in the diagram below, however affected individuals may not experience all of them.

Signs of Alpha-Mannosidosis6

signs of alphamannosidosis
Learn about living with Alpha-Mannosidosis

  1. Alpha-Mannosidosis (https://www.dovemed.com/diseases-conditions/alpha-mannosidosis/ -Ultimo accesso Gennaio 2025). (2018).
  2. Malm, D. & Nilssen, Ø. Alpha-mannosidosis. Orphanet Journal of Rare Diseases 3, 21 (2008).
  3. MPS Society. Alpha-Mannosidosis (https://mpssociety.org.uk/conditions/related-conditions/alpha-mannosidosis – last accessed February 2025).
  4. Alpha-Mannosidosis (https://rarediseases.org/rare-diseases/alpha-mannosidosis/ – Ultimo accesso Gennaio 2025). NORD (National Organization for Rare Disorders) https://rarediseases.org/rare-diseases/alpha-mannosidosis/ (2020).
  5. Beck, M. et al. Natural history of alpha mannosidosis a longitudinal study. Orphanet J Rare Dis 8, 88 (2013).
  6. Malm, D. & Nilssen, Ø. Alpha-Mannosidosis (https://www.ncbi.nlm.nih.gov/books/NBK1396/). in GeneReviews® (eds. Adam, M. P. et al.) (University of Washington, Seattle, Seattle (WA), 1993).