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Diagnosis of AB variant, GM2 gangliosidosis. 1986

S Kotagal

UI MeSH Term Description Entries
D005678 G(M2) Ganglioside A glycosphingolipid that accumulates due to a deficiency of hexosaminidase A or B (BETA-N-ACETYLHEXOSAMINIDASES), or GM2 activator protein, resulting in GANGLIOSIDOSES, heredity metabolic disorders that include TAY-SACHS DISEASE and SANDHOFF DISEASE. GM2 Ganglioside,Tay-Sachs Disease Ganglioside,Ganglioside GM2,GM2, Ganglioside,Ganglioside, GM2,Ganglioside, Tay-Sachs Disease,Tay Sachs Disease Ganglioside
D005733 Gangliosidoses A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. Ganglioside Storage Diseases,Ganglioside Storage Disorders,Gangliosidosis,Ganglioside Storage Disease,Ganglioside Storage Disorder,Storage Disease, Ganglioside,Storage Diseases, Ganglioside,Storage Disorder, Ganglioside,Storage Disorders, Ganglioside
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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