Medical term:
gangliosidoses
gangliosidosis
[gang″gle-o-si-do´sis] (pl. gangliosido´ses)a lipid storage disorder marked by accumulation of gangliosides in tissues due to an enzyme defect. In generalized gangliosidosis, a hereditary defect in β-galactosidase causes accumulation of ganglioside GM1, resulting in mental retardation, hepatomegaly, skeletal deformities, and, often, a cherry-red spot. In tay-sachs disease, a defect of hexosaminidase A results in accumulation of ganglioside GM2.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
gan·gli·o·si·do·sis
(gang'glē-ō-si-dō'sis),Any disease characterized, in part, by the abnormal accumulation within the nervous system of specific gangliosides, for example, GM2 gangliosidosis, Tay-Sachs disease; caused by hexosaminidase A enzyme deficiency with accumulation of GM2 ganglioside.
Synonym(s): gangliosialidosis, ganglioside lipidosis
Farlex Partner Medical Dictionary © Farlex 2012
gangliosidosis
(găng′glē-ō-sī-dō′sĭs)n.
Any of a group of lysosomal storage diseases characterized by the abnormal accumulation of gangliosides in the tissues, especially within the nervous system.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
gan·gli·o·si·do·sis
(gang'glē-ō-si-dō'sis)Any disease characterized, in part, by the abnormal accumulation within the nervous system of specific gangliosides (e.g., GM2 gangliosidosis, Tay-Sachs disease), caused by hexosaminidase A enzyme deficiency with accumulation of GM2 ganglioside.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
gangliosidosis
A disorder of GANGLIOSIDE metabolism resulting in accumulation of gangliosides in nerve tissue, especially in the lysosomes. Gangliosidoses are usually due to gene mutation causing an enzyme defect or deficiency. An example is TAY-SACH'S DISEASE.Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005
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