Gm2-gangliosidosis with total hexosaminidase deficiency.

Autopsy Brain/enzymology,metabolism,pathology Carbohydrate Metabolism, Inborn Errors/diagnosis Cell Membrane/metabolism Cerebellum/pathology Child, Preschool Cytoplasm/metabolism Diagnosis, Differential Female Ganglia, Autonomic/pathology Gangliosides/metabolism Glucosidases/metabolism Glycoproteins/metabolism Glycosaminoglycans/metabolism Hexosamines/metabolism Humans Infant Lipid Metabolism, Inborn Errors/diagnosis Lipidoses/enzymology,pathology Liver/metabolism Spinal Cord/pathology Spleen/metabolism

Gangliosides Glycoproteins Glycosaminoglycans Hexosamines Glucosidases