Apparent hexosaminidase B deficiency in two healthy members of a pedigree.
A family is described in which all members have decreased serum and leukocyte hexosaminidase activity. Two individuals, the mother and the younger daughter, have a normal ratio of hexosaminidase B (HEX B) to total hexosaminidase, but their serum enzymes display respectively partial or complete lability to heat. It is proposed that the proband is a double heterozygote for the Sandhoff allele and for an allele producing thermolabile beta subunits.
D000293:Adolescent; D000328:Adult; D000483:Alleles; D005260:Female; D006579:Heterozygote; D006596:Hexosaminidases / Q000097:blood / Q000172:deficiency*; D006358:Hot Temperature; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D010375:Pedigree
D006596:Hexosaminidases