Lipid storage diseases


A series of disorders due to inborn errors in lipid metabolism resulting in the abnormal accumulation of lipids in the wrong places (Examples include Gaucher, Fabry and Niemann-Pick diseases and metachromatic leukodystrophy).

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  • Lipids

    Whereas the everyday term “fat” comes from the Old English (from “faett” meaning crammed or adorned), the more scientific term “lipid” comes from the Greek “lipos” which referred to animal fat or vegetable oil.

  • Lipodystrophy

    A disorder of adipose (fatty) tissue characterized by a selective loss of body fat. Patients with lipodystrophy have a tendency to develop insulin resistance, diabetes, a high triglyceride level (hypertriglyceridemia), and fatty liver. There are numerous forms of lipodystrophy that are genetic (inherited) or acquired (not inherited). The genetic forms of lipodystrophy include congenital generalized […]

  • Lipodystrophy syndrome

    A disturbance of lipid (fat) metabolism that involves the partial or total absence of fat, and often abnormal deposition and distribution of fat in the body. There are a number of different lipodystrophy syndromes. Some of them are present at birth (congenital), and others are acquired later. Some are genetic (inherited), and others are not. […]

  • Lipodystrophy, cephalothoracic

    A disorder characterized by painless symmetrical diffuse deposits of fat beneath the skin of the neck, upper trunk, arms and legs. The condition is thought to be genetic although its exact mode of inheritance is uncertain; it may be a mitochondrial DNA disease. It frequently appears in association with alcoholic liver disease, macrocytic anemia (“low […]

  • Lipoidosis, sphingomyelin

    the classical infantile form (type A), the visceral (organ) form (type B), the subacute or juvenile form (type C), the Nova Scotian variant (type D), and the adult form (type E). The disease is named for the German physicians Albert Niemann (1880-1921) and Ludwig Pick (1868-1944). Other names for the disease include sphingomyelinase deficiency.


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