Niemann-Pick Diseases

Overview

A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.

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 Niemann-Pick Diseases

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.140.163.100.435.825.700|C15.604.250.410.625|C16.320.565.189.435.825.700|C16.320.565.398.641.803.730|C16.320.565.595.554.825.700|C18.452.132.100.435.825.700|C18.452.584.563.641.803.730|C18.452.648.189.435.825.700|C18.452.648.398.641.803.730|C18.452.648.595.554.825.700

Preparing for an appointment about Niemann-Pick Diseases

If you are speaking with a healthcare professional about Niemann-Pick Diseases, 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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