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Diseases » Sphingolipidosis » Summary

What is Sphingolipidosis?

What is Sphingolipidosis?

  • Sphingolipidosis: A group of diseases involving the abnormal metabolism and storage of a substance called sphingolipid. Symptoms will vary depending on the disease. Examples of diseases from this group include gangliosidosis, Gaucher's disease and Niemann-Pick disease.
  • Sphingolipidosis: A group of inherited metabolic disorders characterized by an excessive intra-lysosomal deposition of glycosphingolipids and phosphosphingolipids in the CENTRAL NERVOUS SYSTEM and, to a variable degree, in visceral structures. Clinical features vary with the specific subtype of the disease, but common features include progressive deterioration in psychomotor and visual function. (From Arch Neurol 1998 Aug;55(8):1055-6; Menkes, Textbook of Child Neurology, 5th ed, p89)
    Source - Diseases Database

Sphingolipidosis is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Sphingolipidosis, or a subtype of Sphingolipidosis, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Sphingolipidosis: Introduction

Types of Sphingolipidosis:

Broader types of Sphingolipidosis:

What causes Sphingolipidosis?

Causes of Sphingolipidosis: see causes of Sphingolipidosis

What are the symptoms of Sphingolipidosis?

Symptoms of Sphingolipidosis: see symptoms of Sphingolipidosis

Sphingolipidosis: Testing

Diagnostic testing: see tests for Sphingolipidosis.

Misdiagnosis: see misdiagnosis and Sphingolipidosis.

How is it treated?

Doctors and Medical Specialists for Sphingolipidosis: Medical Geneticist ; see also doctors and medical specialists for Sphingolipidosis.
Treatments for Sphingolipidosis: see treatments for Sphingolipidosis

Name and Aliases of Sphingolipidosis

Main name of condition: Sphingolipidosis

Other names or spellings for Sphingolipidosis:


Sphingolipid storage disease, Sphingolipidoses Source - Diseases Database

Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)


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