n. one of a group of compounds occurring in the *myelin sheaths of nerve fibres. They are *glycolipids, containing a sphingolipid bound to a sugar, usually galactose (in galactocerebrosides) or glucose (in glucocerebrosides).
(Anderson–Fabry disease) an inherited disorder – an X-linked recessive condition (see sex-linked) – characterized by deficiency of the enzyme ?-galactosidase. It causes accumulation of glycosphingolipid (see cerebroside) in the body, leading to prominent and progressive involvement of the skin (with the formation of *angiokeratomas), heart, kidneys, and nervous system. The disease is treated with genetically engineered enzyme replacement therapy. [J. Fabry (1860–1930), German dermatologist]... fabry disease
n. one of a group of *glycolipids found in the brain, liver, spleen, and red blood cells (they are particularly abundant in nerve cell membranes). Gangliosides are chemically similar to *cerebrosides but contain additional carbohydrate groups.... ganglioside
a genetically determined (autosomal *recessive) disease resulting from the deposition of glucocerebrosides (see cerebroside) in the brain and other tissues (especially bone). It results in learning disability, abnormal limb posture and spasticity, and difficulty with swallowing. Carrier detection and *preimplantation genetic diagnosis are possible; enzyme replacement therapy may be used in treatment. [P. C. E. Gaucher (1854–1918), French physician]... gaucher’s disease