title: Partial deficiency of beta-hexosaminidase activity in canine GM2-gangliosidosis.
abstract: 4-Methylumbelliferyl-N-acetylglucosamine-6-sulfate (4MUGLc6S) which is known to be a specific substrate for human hexosaminidase A was used to determine enzymatic features of canine GM2-gangliosidosis. The enzyme activity using 4MUGlc6S in affected dog brain and liver was less than 20 to 30% of control tissues, whereas total 4-methylumbelliferyl beta-glucosaminidase activity in canine GM2-gangliosidosis was normal or elevated. However, when beta-hexosaminidase was fractionated by DEAE-Sepharose column chromatography, beta-hexosaminidase A like fraction in affected dog tissues was reduced to 20 to 30% of control. These data suggest that canine GM2-gangliosidosis is analogous to human juvenile.
mesh_terms: D000818:Animals; D002848:Chromatography, DEAE-Cellulose; D004195:Disease Models, Animal; D004283:Dog Diseases / Q000201:enzymology*; D004285:Dogs; D005678:G(M2) Ganglioside; D005733:Gangliosidoses / Q000201:enzymology* / Q000662:veterinary; D054818:Hexosaminidase A; D006923:Hymecromone / Q000031:analogs & derivatives; D007527:Isoenzymes / Q000302:isolation & purification; D001619:beta-N-Acetylhexosaminidases / Q000172:deficiency* / Q000302:isolation & purification
chemical_list: D007527:Isoenzymes; D005678:G(M2) Ganglioside; D006923:Hymecromone; C043647:4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-glucopyranoside; D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases