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. More detailed information about the symptoms, causes, and treatments of Sphingolipidosis is available below.
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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)
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