g(m1)-ganglioside and Mucopolysaccharidosis-III

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

Total ganglioside extracts prepared from brain tissue were concentrated either by dialysis against Carbowax or by employing Millipore filter cones. Thin-layer chromatography was then carried out using silica gel plates. After location of the various fractions quantitation was effected by direct densitometry. The methods that have been adopted are rapid and suitable for the study of brain gangliosides in post mortem and biopsy material in a clinical chemistry laboratory.

Topics: Animals; Brain; Cats; Chromatography, Thin Layer; G(M1) Ganglioside; G(M2) Ganglioside; Gangliosides; Gangliosidoses; Humans; Mucopolysaccharidosis III; Tay-Sachs Disease

The pathologic changes in a rare case of mucopolysaccharidosis (MPS) type IIIB or Sanfilippo's syndrome B (absence of alpha-N-acetylglucosaminidase) are presented, along with the biochemical findings. Comparisons were made with other reported cases of MPS III subtypes and related storage disorders in terms of clinical, light microscopic, electron microscopic, and chemical findings, and a correlation of the ultrastructural changes made with the severe neurological dysfunction noted in this disorder. At present, MPS III subtypes cannot be separated from one another by morphological means because the same expression and distribution of lesions may be encountered among differing subtypes.

Topics: Adolescent; Brain; Brain Chemistry; Cerebral Cortex; Cerebrosides; Electrophoresis; Female; G(M1) Ganglioside; G(M2) Ganglioside; Glycosaminoglycans; Glycosphingolipids; Humans; Mucopolysaccharidoses; Mucopolysaccharidosis III