title: [Gangliosidosis GM1. Clinical, radiologic, biochemical and histological studies in two cases (author's transl)].
abstract: Two cases of Gangliosidosis GM1 are presented. They are a child who showed psychomotor backward and generalized osteoporosis, died at 16 months, and a girl studied because of psychomotor backward when she was less than a year. This girl showed radiological vertebrae alterations similar to mucopolysaccharidosis and died when she was 7 years old. The enzymatic determinations in serum and cultured fibroblasts showed beta-galactosidase deficiency in both cases. Important storage of cerebral gangliosides with increase of the percentage of GM1 was also found in both cases. Histological alterations were found in some other organs besides the brain.
mesh_terms: D001921:Brain / Q000201:enzymology / Q000473:pathology; D001923:Brain Chemistry; D002648:Child; D005260:Female; D005696:Galactosidases / Q000032:analysis / Q000172:deficiency; D005733:Gangliosidoses / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging
chemical_list: D005696:Galactosidases
vernacular_title: Gangliosidósis GM1. Estudio clínico, radiológico e histológico de dos casos.