g(m3)-ganglioside and Gangliosidoses

Topics: G(M1) Ganglioside; G(M2) Ganglioside; G(M3) Ganglioside; Gangliosidoses; Genetic Carrier Screening; Genetic Counseling; Glycoside Hydrolases; Humans; Leukodystrophy, Metachromatic; Lipidoses; Mucopolysaccharidoses; Mucopolysaccharidosis I; Mucopolysaccharidosis III; Mucopolysaccharidosis IV; Mucopolysaccharidosis VI; Phenotype; Polymorphism, Genetic

Topics: Aged; Anemia, Hemolytic; Autoantibodies; G(M3) Ganglioside; Gangliosidoses; Guillain-Barre Syndrome; Humans; Male

The internalization of exogenous mixed brain gangliosides in ML IV cultured skin fibroblasts indicated an impairment of ganglioside catabolism in these cells. Incubation of ML IV, normal and various other lysosomal storage disorders cell lines for five days with exogenous tritium labelled GM3, GD1a or GT1 gangliosides allowed accurate quantitation of the retained gangliosides. This in vitro approach provides a reliable method for the diagnosis of ML IV.

Topics: Cells, Cultured; Child; Child, Preschool; Fibroblasts; G(M2) Ganglioside; G(M3) Ganglioside; Gangliosides; Gangliosidoses; Humans; Infant; Mucolipidoses

Neonatal ascites is usually attributed to hematologic, genitourinary, gastrointestinal tract, or congenital heart disease. When these lesions have been excluded, metabolic storage disorders should be considered in the differential diagnosis. We report eight cases of neonatal ascites associated with different types of lysosomal storage disease: infantile sialidosis, Salla disease, GM1 gangliosidosis, and Gaucher disease. In each case there was a history of sibling of perinatal death resulting from the disease. In three cases the diagnosis of ascites was made in utero by ultrasound examination. These diseases are characterized by excretion in the fetal urine of abnormal catabolic products or by measurement of decreased activity of specific lysosomal hydrolases in cultured amniocytes. Thin-layer chromatography of the oligosaccharides in amniotic fluid may be indicated when a diagnosis of persistent fetal ascites has been established.

Topics: Adult; Amniotic Fluid; Ascites; Carbohydrate Metabolism, Inborn Errors; Chromatography, Thin Layer; Female; G(M3) Ganglioside; Gangliosidoses; Gaucher Disease; Humans; Infant, Newborn; Liver; Mucolipidoses; Oligosaccharides; Pregnancy; Prenatal Diagnosis; Sialic Acids

Uptake of radioactivity from 14C-galactose into gangliosides by cultured skin fibroblasts was studied. GM3 was the major ganglioside in control human fibroblasts. An increase of GM1 was demonstrated in GM1-gangliosidosis fibroblasts. The degree of GM1 accumulation was correlated with the clinical types of this disease. The fibroblasts from an infantile-type patient showed a marked increase of GM1. In late-onset types the amount of total gangliosides was only slightly increased, but the distribution of individual gangliosides was definitely abnormal; a relative increase of GM1 was demonstrated in these cases. GM1 beta-galactosidase activities were not detectable in either infantile or late-onset cases.

Topics: beta-Galactosidase; Cells, Cultured; Child, Preschool; Female; Fibroblasts; G(M1) Ganglioside; G(M3) Ganglioside; Gangliosides; Gangliosidoses; Humans; Infant; Male; Skin