Niemann-Pick Disease, Type A

Overview

The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.

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 Disease, Type A

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.140.163.100.435.825.700.500|C15.604.250.410.625.500|C16.320.565.189.435.825.700.500|C16.320.565.398.641.803.730.500|C16.320.565.595.554.825.700.500|C18.452.132.100.435.825.700.500|C18.452.584.563.641.803.730.500|C18.452.648.189.435.825.700.500|C18.452.648.398.641.803.730.500|C18.452.648.595.554.825.700.500

Preparing for an appointment about Niemann-Pick Disease, Type A

If you are speaking with a healthcare professional about Niemann-Pick Disease, Type A, 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.

Finding care related to Niemann-Pick Disease, Type A

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