acid-phosphatase and Mucopolysaccharidosis-I

Lymphocytes from 6 patients with 3 types of genetic mucopolysaccharidoses (Hurler's syndrome, Hunter's syndrome and Morquio's syndrome) contained numberous vacuoles in their cytoplasm. The size of the vacuoles ranged from approximately 300 nm to 750 nm. The percentage of the lymphocytes with vacuoles varied from 10% to 38%. The vacuoles showed acid phosphatase activity, which indicated their lysosommal nature. Staining with dialyzed iron solution usually localized acid mucosubstance in the peripheral region of these vacuoles after glutaraldehyde fixation. Ferritin and horseradish peroxidase were observed in the vacuoles after incubation of the patient's lymphocytes with these tracers. This finding indicates the participation of endocytosis in the formation of these vacuoles.

Topics: Acid Phosphatase; Adolescent; Child; Child, Preschool; Cytoplasm; Endocytosis; Female; Ferritins; Horseradish Peroxidase; Humans; Infant; Lymphocytes; Male; Microscopy, Electron; Mucopolysaccharidoses; Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis IV; Vacuoles

Topics: Acetylglucosaminidase; Acid Phosphatase; alpha-L-Fucosidase; Fibroblasts; Galactosidases; Glucuronidase; Humans; Infant; Leukocytes; Lysosomes; Male; Mannosidases; Mucopolysaccharidosis I

Topics: Acid Phosphatase; Adult; Biopsy; Chondroitin; Elastic Tissue; Electroretinography; Female; Fibroblasts; Galactosidases; Glucuronidase; Glycoproteins; Glycoside Hydrolases; Hexosaminidases; Humans; Male; Mucopolysaccharidoses; Mucopolysaccharidosis I; Visual Acuity

Topics: Acid Phosphatase; Age Factors; Apnea; Autopsy; Brain Chemistry; Diagnosis, Differential; Galactosidases; Gangliosides; Genotype; Gigantism; Hepatomegaly; Humans; Infant; Lipidoses; Male; Mucopolysaccharidosis I

Topics: Acid Phosphatase; Cells, Cultured; Fibroblasts; Golgi Apparatus; Humans; Lysosomes; Microscopy, Electron; Mucopolysaccharidosis I; Polysaccharides; Skin; Sulfatases; Tolonium Chloride

Topics: Acid Phosphatase; Adolescent; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Fucose; Galactosidases; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Hyaluronoglucosaminidase; Intellectual Disability; Liver; Mannose; Mucopolysaccharidosis I; Sulfatases

Topics: Acid Phosphatase; Adolescent; Adult; Animals; Brain; Cathepsins; Child; Child, Preschool; Galactosidases; Glucosidases; Glucuronidase; Hexosaminidases; Humans; Hyaluronoglucosaminidase; Kinetics; Liver; Lysosomes; Microsomes, Liver; Mucopolysaccharidosis I; Rats; Sulfatases

Topics: Acid Phosphatase; Adolescent; Adult; Brain; Child; Child, Preschool; Endopeptidases; Galactosidases; Gangliosides; Glucosidases; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Glycosides; Humans; Infant; Kidney; Liver; Mucopolysaccharidosis I; Spleen

Topics: Acid Phosphatase; Biopsy; Child; Child, Preschool; Galactosidases; Glucuronidase; Humans; Infant; Liver; Mucopolysaccharidosis I

Topics: Acid Phosphatase; Child; Diffuse Cerebral Sclerosis of Schilder; Glycogen Storage Disease; Humans; Leukodystrophy, Metachromatic; Mucopolysaccharidosis I; Niemann-Pick Diseases; Sulfatases; Tuberous Sclerosis; Urine

Topics: Acid Phosphatase; Adolescent; Alkaline Phosphatase; Aminohydrolases; Brain; Carotenoids; Child; Chondroitin; Diffuse Cerebral Sclerosis of Schilder; Gangliosides; Glucosyltransferases; Histocytochemistry; Humans; Infant; Kidney; Lipid Metabolism; Liver; Metabolic Diseases; Mucopolysaccharidosis I; Phosphotransferases; Rats; Research; Sulfatases; Sulfates; Sulfur Isotopes; Tuberous Sclerosis