Mucolipidoses

Overview

A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)

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 Mucolipidoses

Topic type

Condition

Category

Orthopaedics

MeSH classification

C05.116.198.371|C10.228.140.163.100.435.590|C16.320.565.189.435.590|C16.320.565.202.670|C16.320.565.595.554.590|C18.452.132.100.435.590|C18.452.648.189.435.590|C18.452.648.202.670|C18.452.648.595.554.590

Preparing for an appointment about Mucolipidoses

If you are speaking with a healthcare professional about Mucolipidoses, 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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