title: Prenatal diagnosis of GM2-gangliosidosis B1 variant.
abstract: Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM2-gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM2-ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM2-gangliosidosis (0 variant) was compared.
authors.affiliation: Instituto de Genetica Médica Jacinto Magalhaes, Porto, Portugal.
authors.forename: M
authors.initials: M
authors.lastname: Lemos
authors.forename: R
authors.initials: R
authors.lastname: Pinto
authors.forename: G
authors.initials: G
authors.lastname: Ribeiro
authors.forename: H
authors.initials: H
authors.lastname: Ribeiro
authors.forename: L
authors.initials: L
authors.lastname: Lopes
authors.forename: M C
authors.initials: MC
authors.lastname: Sá Miranda
mesh_terms: D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology; D001921:Brain / Q000196:embryology / Q000201:enzymology; D002478:Cells, Cultured; D005260:Female; D005625:Frontal Lobe / Q000201:enzymology; D005678:G(M2) Ganglioside / Q000378:metabolism; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D009154:Mutation; D011174:Portugal; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013661:Tay-Sachs Disease / Q000175:diagnosis* / Q000235:genetics; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics
chemical_list: D005678:G(M2) Ganglioside; D001619:beta-N-Acetylhexosaminidases