title: [The use of loading tests with labeled GM1-ganglioside for differential diagnosis of GM1-gangliosidosis].
abstract: Kinetics of GM1-ganglioside accumulation was studied in fibroblast cultures from patients with various forms of GM1-gangliosidosis using the labelled native substrate GM1-ganglioside isolated from human brain. A shape of accumulation curves in the plot was shown to depend on GM1-ganglioside concentration in a medium in juvenile form of the disease. Use of a number of the fibroblast strains and optimal concentration of GM1-ganglioside 20 micrograms/ml enabled to carry out allele differentiation of the juvenile form of GM1-gangliosidosis from infantile and normal forms, thus suggesting that the loading tests could be applied to pre- and postnatal diagnosis of GM1-gangliosidosis.
authors.forename: V S
authors.initials: VS
authors.lastname: Akhunov
authors.forename: K D
authors.initials: KD
authors.lastname: Krasnopol'skaia
authors.forename: T V
authors.initials: TV
authors.lastname: Mirenburg
mesh_terms: D001923:Brain Chemistry; D003937:Diagnosis, Differential; D005347:Fibroblasts / Q000201:enzymology; D005677:G(M1) Ganglioside / Q000302:isolation & purification; D005733:Gangliosidoses / Q000175:diagnosis*; D006801:Humans; D001616:beta-Galactosidase / Q000172:deficiency
chemical_list: D005677:G(M1) Ganglioside; D001616:beta-Galactosidase
vernacular_title: Ispol'zovanie nagruzochnykh testov s pomoshch'iu mechenogo GM1-gangliozida dlia differentsial'noĭ diagnostiki GM1-gangliozidoza.