- ceramide trihexosidase
- cer·a·mide tri·hex·o·si·dase (serґə-mīd tri″hek-soґsĭ-dās) α-galactosidase A.
Medical dictionary. 2011.
Medical dictionary. 2011.
ceramide trihexosidase deficiency — cer·a·mide tri·hex·o·si·dase de·fi·cien·cy (serґə mīd tri″hek soґsĭ dās) Fabry disease … Medical dictionary
Список наследственных заболеваний — Список генетических заболеваний Основные статьи: наследственные заболевания, Наследственные болезни обмена веществ, Ферментопатия. В большинстве случаев приведен также код, указывающий на тип мутации и связанные с ней хромосомы. См. также система … Википедия
α-galactosidase A — a lysosomal enzyme that catalyzes the cleavage of terminal galactose residues from glycosphingolipids, particularly ceramide trihexosides. Deficiency of the enzyme, an X linked trait, causes accumulation of ceramide trihexosides and other… … Medical dictionary
Galactosylgalactosylglucosylceramidase — In enzymology, a galactosylgalactosylglucosylceramidase (EC number|3.2.1.47) is an enzyme that catalyzes the chemical reaction:D galactosyl D galactosyl D glucosyl N acylsphingosine + H2O ightleftharpoons D galactose + lactosyl N… … Wikipedia
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
Fabry disease — (= angiokeratoma) Storage disease due to deficiency of ceramide trihexosidase … Dictionary of molecular biology