Sphingolipidoses

Overview

A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.

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 Sphingolipidoses

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.140.163.100.435.825|C16.320.565.189.435.825|C16.320.565.398.641.803|C16.320.565.595.554.825|C18.452.132.100.435.825|C18.452.584.563.641.803|C18.452.648.189.435.825|C18.452.648.398.641.803|C18.452.648.595.554.825

Preparing for an appointment about Sphingolipidoses

If you are speaking with a healthcare professional about Sphingolipidoses, 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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