- 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. 2011.
Medical dictionary. 2011.
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
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
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
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 — (= angiokeratoma) Storage disease due to deficiency of ceramide trihexosidase … Dictionary of molecular biology