ceramide trihexoside

ceramide trihexoside
any of a specific family of glycosphingolipids of composition galactose-galactose-glucose-ceramide; due to deficiency of α-galactosidase A activity, they accumulate abnormally in plasma and tissues in Fabry disease.

Medical dictionary. 2011.

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  • Fabry disease — ICD10 = E75.2 (ILDS E75.25) Classification and external resources Alpha galactosidase the protein that is deficient in Fabry disease …   Wikipedia

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  • lipid storage disease — Any of a group of relatively rare hereditary disorders of fat metabolism in which enzyme defects cause distinctive types of lipids to accumulate. They include Tay Sachs disease, Gaucher disease, Niemann Pick disease, and Fabry disease. Several… …   Universalium

  • Fabry disease — A genetic disease due to deficiency of an enzyme called alpha galactosidase A. This enzyme is essential to the metabolism of molecules known as glycosphingolipids. Without the enzyme, glycosphingolipids accumulate in the kidneys, heart, nerves… …   Medical dictionary

  • Alpha-galactosidase — is a glycoside hydrolase enzyme that hydrolyses the terminal alpha galactosyl moieties from glycolipids and glycoproteins. It is encoded by the gene|GLA gene. PBB Summary section title = summary text = Chemistry This enzyme is a homodimeric… …   Wikipedia

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  • Fabry's disease — ▪ pathology also called  Angiokeratoma Corporis Diffusum,         sex linked hereditary disease in which a deficiency in the enzyme alpha galactosidase A results in abnormal deposits of a glycosphingolipid (ceramide trihexoside) in the blood… …   Universalium

  • globotriaosylceramide — A sphingolipid containing three sugar moieties that accumulates in individuals with Fabry disease. SYN: trihexosylceramide. * * * globo·tri·a·o·syl·cer·a·mide (glo″bo tri a″o səl serґə mīd) ceramide trihexoside …   Medical dictionary

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