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.

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, G_M2 gangliosidosis, Tay-Sachs disease; caused by hexosaminidase A enzyme deficiency with accumulation of G_M2 ganglioside. Synonym(s): gangliosialidosis, ganglioside lipidosis

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.

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., G_M2 gangliosidosis, Tay-Sachs disease), caused by hexosaminidase A enzyme deficiency with accumulation of G_M2 ganglioside.

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.

单词	gangliosidosis
释义	gangliosidosis 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. 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, G_M2 gangliosidosis, Tay-Sachs disease; caused by hexosaminidase A enzyme deficiency with accumulation of G_M2 ganglioside. Synonym(s): gangliosialidosis, ganglioside lipidosis 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. 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., G_M2 gangliosidosis, Tay-Sachs disease), caused by hexosaminidase A enzyme deficiency with accumulation of G_M2 ganglioside. 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.
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