[Generalized GM1 gangliosidosis. Report of a case and review of the literature].
Authors present the case of a child, daughter of non related parents with neurologic progressive affectation, retina and visceral implication with certain pseudogargolic clinical aspect without near familiar antecedents suggestive of this disease. Biochemistry and histologic studies revealed a B-galactosidase enzyme deficiency and lipidic intracellular increase in different viscera. Biochemistry, hystological and clinical aspects exposed are fundamentally differential of another causes of pseudo-Hurler syndrome.
D005260:Female; D005677:G(M1) Ganglioside / Q000378:metabolism; D005696:Galactosidases / Q000172:deficiency*; D005733:Gangliosidoses / Q000201:enzymology* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D013106:Sphingolipidoses / Q000145:classification / Q000473:pathology; D013108:Sphingomyelin Phosphodiesterase / Q000032:analysis; D001616:beta-Galactosidase / Q000172:deficiency*; D001617:beta-Glucosidase / Q000032:analysis
D005677:G(M1) Ganglioside; D013108:Sphingomyelin Phosphodiesterase; D005696:Galactosidases; D001617:beta-Glucosidase; C021502:acid beta-galactosidase; D001616:beta-Galactosidase
Gangliosidosis GM1 generalizada. Aportación de un caso y revisión de la literatura.