sphingolipidosis

pathology

Also known as: sphingo-lipodystrophy

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Last updated

July 14, 2026

Quick Summary

Sphingolipidosis refers to a group of inherited disorders characterized by the abnormal metabolism and storage of sphingolipids. Sphingolipids are a class of lipids that contain sphingosine or a similar structure.12

Key aspects of sphingolipidosis include:

Cause: These conditions arise from deficiencies in enzymes responsible for breaking down sphingolipids, leading to their accumulation in body tissues.23
Examples: Well-known forms include Tay-Sachs disease, where sphingolipids build up in the brain, and Niemann-Pick disease, where lecithin and sphingomyelin accumulate in organs like the liver and spleen.23
Symptoms: Manifestations vary but can include enlarged organs, intellectual disability, and neurological issues.3

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sphingolipid
…of diseases known collectively as sphingolipidosis, or sphingolipodystrophy. One of the more common forms of cerebral sphingolipidosis (or cerebral lipidosis), formerly called amaurotic familial idiocy, is Tay-Sachs disease (q.v.), a rare, inheritable disorder caused by the accumulation of sphingolipids in the brain. Another inheritable lipidosis is Niemann-Pick disease (q.v.),
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…of diseases known collectively as sphingolipidosis, or sphingolipodystrophy. One of the more common forms of cerebral sphingolipidosis (or cerebral lipidosis), formerly called amaurotic familial idiocy, is Tay-Sachs disease (q.v.), a rare, inheritable disorder caused by the accumulation of sphingolipids in the brain. Another inheritable lipidosis is Niemann-Pick disease (q.v.),
Read More