g(m1)-ganglioside and Fabry-Disease

Topics: alpha-Galactosidase; Arylsulfatases; beta-Galactosidase; Cystine; Fabry Disease; G(M1) Ganglioside; G(M2) Ganglioside; Galactosylceramidase; Gangliosidoses; Genetic Carrier Screening; Glycoproteins; Heparitin Sulfate; Humans; Hydrolases; Isoelectric Focusing; Isoenzymes; Kinetics; Leukodystrophy, Globoid Cell; Leukodystrophy, Metachromatic; Lipid Metabolism, Inborn Errors; Lysosomes; Metabolism, Inborn Errors; Molecular Weight; Mucolipidoses; Niemann-Pick Diseases; Sphingolipidoses; Sphingomyelin Phosphodiesterase

Topics: Adolescent; Adult; Animals; beta-Galactosidase; Cats; Cerebrovascular Disorders; Child, Preschool; Coronary Disease; Fabry Disease; Female; G(M1) Ganglioside; G(M2) Ganglioside; Gangliosidoses; Gaucher Disease; Glycolipids; Hexosaminidases; Humans; Infant; Infant, Newborn; Leukodystrophy, Globoid Cell; Leukodystrophy, Metachromatic; Male; Sodium-Potassium-Exchanging ATPase; Vascular Resistance

A patient with severe deficiency of beta-galactosidase, who developed skin lesions of angiokeratoma corporis diffusum between the 3rd and 10th month of life, is described. The activity of other lysosomal enzymes, including alpha-neuraminidase, was normal. The first signs of the disease were noticed during the first month of life. By 3 months coarseness of the face and psychomotor retardation were present. In addition to angiokeratoma, he had large mongolian spots and several scattered slate-blue spots of pigmentation over his body. With the exception of the skin lesions, the other clinical signs and the course of the psychomotor deterioration were within the clinical picture of GM1 gangliosidosis, Type 1. Angiokeratoma, a manifestation of several lysosomal disorders, may appear in GM1 gangliosidosis during the first year of life.

Topics: beta-Galactosidase; Fabry Disease; G(M1) Ganglioside; Gangliosidoses; Humans; Infant; Male; Skin

alpha-Galactosidase and beta-galactosidase activities have been determined in leukocyte preparations from 100 randomly selected Chinese adults. For alpha-galactosidase, two groups with low activities were identified: group I consisted of 3 females having activities below 40% of normal, and group II consisted of 5 males and 1 female with activities about 60% of normal. Family studies suggested that these low alpha-galactosidase activities are genetically determined. Only 1 individual was found to have about 50% of normal beta-galactosidase activity; presumably he is a carrier for beta-galactosidase deficiency (GM1 gangliosidosis).

Topics: Adult; alpha-Galactosidase; beta-Galactosidase; China; Fabry Disease; Female; G(M1) Ganglioside; Galactosidases; Gangliosidoses; Genetic Carrier Screening; Humans; Leukocytes; Lysosomes; Male; Pedigree; United States