Normal adult with absent HEX A: immunoreactive HEX A is present.
Fibroblasts from a normal adult with absent hexosaminidase A (HEX A) activity were demonstrated to possess immunoreactive HEX A as measured by GM2 beta-D-N-acetylgalactosaminidase activity which precipitated with specific anti-HEX A antibodies. Possible explanations for the molecular defect are presented.
D000906:Antibodies; D005347:Fibroblasts / Q000201:enzymology; D005678:G(M2) Ganglioside; D014644:Genetic Variation; D006596:Hexosaminidases / Q000172:deficiency* / Q000235:genetics / Q000276:immunology; D006801:Humans; D008297:Male
D000906:Antibodies; D005678:G(M2) Ganglioside; D006596:Hexosaminidases