alpha-Mannosidosis

Overview

An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about alpha-Mannosidosis

Topic type

Condition

Category

General Healthcare

MeSH classification

C16.320.565.202.607.500|C16.320.565.595.577.500|C18.452.648.202.607.500|C18.452.648.595.577.500

Preparing for an appointment about alpha-Mannosidosis

If you are speaking with a healthcare professional about alpha-Mannosidosis, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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