Characterization of a variant of beta-hexosaminidase: "hexosaminidase Paris".
A family (father and daughter) was found with a deficiency of hexosaminidase (HEX A and HEX B). Residual HEX A activity was about 30% of usual heterozygotes with very little HEX B activity. Thermostability of HEX A was decreased. No immunological cross reacting material was found for HEX A or B. The mechanism seems to be the production of abnormal, unstable beta subunits, which are still capable of combining with alpha subunits to form functional HEX A.
D000118:Acetylglucosaminidase / Q000378:metabolism*; D000328:Adult; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D014644:Genetic Variation; D006579:Heterozygote; D006596:Hexosaminidases / Q000378:metabolism*; D006801:Humans; D007122:Immunoelectrophoresis; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D008064:Lipidoses / Q000175:diagnosis; D008297:Male
D006596:Hexosaminidases; D000118:Acetylglucosaminidase