The lipidoses are a group of disorders which have in common a disturbance of lipid metabolism. The lipidoses include Tay-Sachs disease, Niemann-Pick disease, Gaucher's disease, Hand-Schüller-Christian disease, and the xanthomatoses.
A specific lipid has been identified in Niemann-Pick's disease, sphingomyelin1; in Gaucher's disease, kerasin,2 and in Hand-Schüller-Christian disease, cholesterol. The xanthomatoses include those lipidoses in which cholesterol is the predominant lipid.3 In the infantile cerebroretinal lipidosis, Tay-Sachs disease, the lipid involved is a cerebroside, provisionally designated as Substance X, containing the characteristic amino acid neuramic acid.4
In the lipidoses the lipids accumulate in various sites, in the viscera, central nervous system, skin, and skeleton.5 A somewhat similar tissue response occurs in all the lipidoses. The lipid is ingested by phagocytes giving rise to "foam cells," in addition to a lipid degeneration of tissue cells.5 The lipids may be confined to reticular cells and histiocytes,
GARTNER S, BRONSTEIN M. Infantile Cerebroretinal Lipidosis (Tay-Sachs Disease). AMA Arch Ophthalmol. 1958;59(4):584-589. doi:10.1001/archopht.1958.00940050140016