title: Enzyme studies in GM2 gangliosidiosis, and their application in prenatal diagnosis.
abstract: Assay of hexosaminidase A and B enzymes in four cases with developmental regression and cherry red spot on fundus examination confirmed that three cases had Tay-Sachs disease, and one case had Sandhoff disease. Prenatal diagnosis was carried out by hexosaminidase enzyme assay in amniotic fluid and cells in one family, and chorionic villus sample in the second family. The fetus was diagnosed to be unaffected in one, and affected in the other family. Assay of hexosaminidase A and B is useful for specific diagnosis of GM2 gangliosidosis, and for prenatal diagnosis to reduce the burden of these disorders.
authors.affiliation: Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.
authors.forename: M
authors.initials: M
authors.lastname: Kaur
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
mesh_terms: D015415:Biomarkers / Q000097:blood; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000201:enzymology; D054818:Hexosaminidase A; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012497:Sandhoff Disease / Q000175:diagnosis* / Q000201:enzymology; D012680:Sensitivity and Specificity; D013661:Tay-Sachs Disease / Q000175:diagnosis* / Q000201:enzymology; D001619:beta-N-Acetylhexosaminidases / Q000378:metabolism*
chemical_list: D015415:Biomarkers; D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases