A benign deficiency of typeB beta-galactosidase in human liver.
The type A or 'acid' and type B or 'neutral' beta-galactosidase activities have been measured in post-mortem liver samples from individuals dying of non-genetic diseases and patients dying of ganglioside storage disease other than GM1 gangliosidosis. The type A activities fell within the established normal range in all samples. The type B activities showed a biomodal distribution suggesting the occurrence of two distinct populations of human individuals. The greater proportion had activities within the range 11.67 pkat/mg of protein (+/- 3.33, S.D.), while others had lower activities in the range 0.48 pkat/mg of protein (+/- 0.38, S.D.). No clinical symptoms were associated with the much lower type B beta-galactosidase activities and it appears that this beta-galactosidase deficiency could be found in the original tissues. Methods of screening for type B beta-galactosidase deficiency are described and the significance of this enzyme deficiency is discussed.
D002848:Chromatography, DEAE-Cellulose; D004592:Electrophoresis, Starch Gel; D005733:Gangliosidoses / Q000201:enzymology; D006026:Glycoside Hydrolases / Q000032:analysis; D006358:Hot Temperature; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007527:Isoenzymes / Q000302:isolation & purification*; D007787:Lactose Intolerance; D008099:Liver / Q000201:enzymology*; D009439:Neuraminidase
D007527:Isoenzymes; D006026:Glycoside Hydrolases; D009439:Neuraminidase