g(m2)-ganglioside and Mucopolysaccharidoses

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: alpha-Mannosidosis; Female; Fetal Diseases; G(M2) Ganglioside; Humans; Leukodystrophy, Metachromatic; Metabolism, Inborn Errors; Mucopolysaccharidoses; Pregnancy; Prenatal Diagnosis; Tay-Sachs Disease

Congenital glycolipidoses of the nervous system cause accumulation of various storage substances in cells. Methods of lipid and lectin histochemistry were used in an attempt for classification by known groups of diseases, on the basis of stored lipids. While conventional methods of lipid histochemistry enabled classification of accumulated substances only by lipid classes, lectin approaches provided additional information on sugar bonding points in cases of glycosphingolipidoses. For example, HPR-labelled and FITC-labelled WGA was positively recorded from neurons in cases of GM 2-gangliosidoses and mucopolysaccharidoses, type HURLER. Particular interest was aroused by RCA-I and PNA-positive reactions in glial cells of globoid cell leucodystrophy, since no histochemical method had been available in the past for diagnosis of this storage disease. Hence, the findings recorded by ALROY et al. (1986) from Twitcher mice, an animal model of galactosylceramidosis, have been confirmed by human material.

Topics: G(M2) Ganglioside; Gangliosidoses; Histocytochemistry; Humans; Lectins; Leukodystrophy, Globoid Cell; Leukodystrophy, Metachromatic; Lipid Metabolism, Inborn Errors; Lipids; Mucopolysaccharidoses; Nervous System Diseases; Neurons; Niemann-Pick Diseases; 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