title: [Sandhoff's disease (GM2 gangliosidosis, type II). Presentation of a case with a clinical and biochemical study. Carrier detection].
abstract: A case affected by Sandhoff's disease is reported, with clinical and biochemical studies. In the propositus, total absence of hexosaminidases is reported. In parents hexosaminidase A is present, but hexosaminidase B is decreased. In the carriers there is a total low activity of hexosaminidase and a lower proportion 20% of hexosaminidase is confirmed.
mesh_terms: D005260:Female; D006580:Genetic Carrier Screening; D006596:Hexosaminidases / Q000172:deficiency; D006801:Humans; D007223:Infant; D007527:Isoenzymes / Q000032:analysis; D007962:Leukocytes / Q000201:enzymology; D012497:Sandhoff Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology
chemical_list: D007527:Isoenzymes; D006596:Hexosaminidases
vernacular_title: Enfermedad de Sandhoff (gangliosidosis GM2 tipo II). Presentación de un caso con estudio clínico y bioquímico. Investigación de portadores.