acid-phosphatase and Mucopolysaccharidoses

Topics: Acetylglucosaminidase; Acid Phosphatase; alpha-L-Fucosidase; Cerebroside-Sulfatase; Chondro-4-Sulfatase; Glucuronidase; Heparitin Sulfate; Humans; Iduronate Sulfatase; Iduronidase; Mannosidases; Mucolipidoses; Mucopolysaccharidoses; Sulfatases

Topics: Acid Phosphatase; Adrenal Hyperplasia, Congenital; Amino Acid Metabolism, Inborn Errors; Amniocentesis; Amniotic Fluid; Blood Chemical Analysis; Carbohydrate Metabolism, Inborn Errors; Chromosome Aberrations; Chromosome Disorders; Cystic Fibrosis; Endoscopy; Female; Fetoscopy; Fetus; Genetic Diseases, Inborn; Humans; Lesch-Nyhan Syndrome; Lipid Metabolism, Inborn Errors; Lysosomes; Metabolism, Inborn Errors; Mucopolysaccharidoses; Pregnancy; Prenatal Diagnosis; Radiography; Ultrasonography; Urine

Topics: Abortion, Induced; Acid Phosphatase; Adrenal Hyperplasia, Congenital; Amnion; Amniotic Fluid; Carbohydrate Metabolism, Inborn Errors; Congenital Abnormalities; Counseling; Culture Techniques; Cystic Fibrosis; Economics, Medical; Ethics, Medical; Female; Fetal Diseases; Fibroblasts; Genetic Diseases, Inborn; Glycogen Storage Disease; Heterozygote; Homozygote; Humans; Lysosomes; Mannose; Marfan Syndrome; Methods; Mucopolysaccharidoses; Muscular Dystrophies; Porphyrias; Pregnancy; Punctures; Xeroderma Pigmentosum

Acetyl-CoA:alpha-glucosaminide N-acetyltransferase is a lysosomal-membrane enzyme deficient in a genetic disorder, Sanfilippo disease type C. The enzyme catalyzes the transfer of an acetyl group from cytoplasmic acetyl-coenzyme A (acetyl-CoA) to terminal alpha-glucosamine residues of heparan sulfate within the organelle. Previous kinetic experiments indicated that the enzyme carries out a transmembrane acetylation via a ping-pong mechanism; the reaction can therefore be dissected into two half reactions--acetylation of the enzyme, and transfer of the acetyl group to glucosamine. Cells derived from patients were found to differ in their ability to perform each half reaction. Five cell lines (derived from three families) were able to catalyze acetylation of the lysosomal membrane and to carry out acetyl-CoA/CoA exchange, whereas a sixth cell line was devoid of this activity.

Topics: Acetylation; Acetyltransferases; Acid Phosphatase; beta-Glucosidase; Biological Transport; Coenzyme A; Glucosamine; Heparitin Sulfate; Hexosaminidases; Humans; Intracellular Membranes; Lysosomes; Membrane Proteins; Mucopolysaccharidoses; Mucopolysaccharidosis III

Topics: Acid Phosphatase; Ammonium Chloride; Cells, Cultured; Centrioles; Chloroquine; Fibroblasts; Golgi Apparatus; Humans; Lipids; Lysosomes; Mitosis; Mucolipidoses; Mucopolysaccharidoses; Organoids

The activity of acid hydrolases was studied in serum from patients with mucolipidosis (II and III) and other lysosomal disorders. In mucolipidosis II and III all hydrolases examined except alpha-glucosidase, beta-glucosidase and acid phosphatase were greatly increased. High values for beta-galactosidase were seen in mucopolysaccharidosis types I and II, Gaucher's disease, juvenile amaurotic idiocy and metachromatic leucodystrophy. N-Acetyl-beta-glucosaminidase activity was high in mucopolysaccharidosis types I, II, III and Gaucher's disease. The activity of beta-glucuronidase was increased in mucopolysaccharidosis types I, II and III, Gaucher's disease, juvenile amaurotic idiocy and metachromatic leucodystrophy. Acid phosphatase had increased activity only in Gaucher's disease. In several lysosomal storage disorders no increased values could be found. It is suggested that high values in serum from patients with lysosomal storage disorders (not including mucolipidosis II and III) may depend upon liver cell damage, which disturbs the clearing of acid hydrolases from serum.

Topics: Acid Phosphatase; Gaucher Disease; Glycoside Hydrolases; Humans; Leukodystrophy, Metachromatic; Lipidoses; Lysosomes; Metabolism, Inborn Errors; Mucopolysaccharidoses

Lysosomal hydrolases participate substantially in the degradation of all classes of biological macromolecules. They act physiologically within the lysosome. The enzymes are either primarily included within primary lysosomes or are transported to these cell organelles after secretion and subsequent adsorptive pinocytosis. The involvement of these enzymes in a variety of pathological conditions can be understood on the basis of the known functions of lysosomal hydrolases. Inactivity of one or several of the enzymes causes lysosomal storage disorders. Similar metabolic consequences are found when the enzymes are unable to be concentrated within the lysosome. Lysosomal hydrolases participate, furthermore, in the pathogenesis of numerous diseases. A distinction can be made between lysosomal overload, pathologically-increased enzyme secretion into the extracellular space, and a release of lysosomal enzymes into the cytosol.

Topics: Acid Phosphatase; Cytosol; Extracellular Space; Genes; Glycoproteins; Heparitin Sulfate; Humans; Hydrolases; Lysosomes; Metabolism, Inborn Errors; Mucopolysaccharidoses; Mutation; Pinocytosis; Sphingolipidoses

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

An autopsy case of a 9 years and 5 months old gargoyle girl diagnosed as Sanfilippo B syndrome by the biochemical demonstration of a large amount of heparan sulfate in urine and some organs and of deficiency of alpha-N-acetyl-D-glucosaminidase in the liver and brain was reported. The morphological changes characterized by cytoplasmic swelling and vacuolization were more generalized than those which had been described in previously reported cases. Histochemically, accumulation of variable amounts of acidic glycosaminoglycans and compound lipids, presumably gangliosides and phospholipids, was substantiated in the vacuolated cells of various visceral organs and in the ballooned neuronal cells. Ultrastructurally, numerous inclusions found in these cells were largely divided into two types; flocculent reticulogranular and osmiophilic, mostly laminated materials, many of which were bound by a single unit membrane. Enzyme cytochemistry proved acid phosphatase activity in the majority of the inclusions in fibroblasts and fibrocytes biopsied from the skin. Rough endoplasmic reticulum in these cells was markedly dilated with reticulogranular materials. The morphological changes of the present case and their pathogenesis were discussed.

Topics: Acetylglucosaminidase; Acid Phosphatase; Brain; Child; Female; Galactosidases; Glucosidases; Glycosaminoglycans; Heparitin Sulfate; Humans; Lipid Metabolism; Liver; Mucopolysaccharidoses; Mucopolysaccharidosis III; Organ Specificity

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: Abnormalities, Multiple; Acid Phosphatase; Arabinose; Corneal Opacity; Cytoplasmic Granules; Fibroblasts; Galactosidases; Glucosidases; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Intellectual Disability; Mannose; Metabolism, Inborn Errors; Mucopolysaccharidoses; Phosphoric Diester Hydrolases; Retinitis Pigmentosa; Skin

Topics: Acid Phosphatase; Adult; Cells, Cultured; Fibroblasts; Glycoside Hydrolases; Humans; Inclusion Bodies; Lymphocytes; Lysosomes; Male; Mucopolysaccharidoses; Sulfatases; Sulfur Radioisotopes

Topics: Acid Phosphatase; Amniotic Fluid; Animals; Cattle; Cells, Cultured; Female; Galactosidases; Glucuronidase; Glycoside Hydrolases; Heterozygote; Hexosaminidases; Homozygote; Humans; Leukocytes; Male; Metabolism, Inborn Errors; Methods; Mucopolysaccharidoses; Pedigree; Skin; Sulfatases

Topics: Acetates; Acid Phosphatase; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Female; Fucose; Galactosidases; Glucuronidase; Glycolipids; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Hydrolases; Infant; Intellectual Disability; Leukocytes; Lipid Metabolism, Inborn Errors; Liver; Lysosomes; Male; Middle Aged; Mucopolysaccharidoses; Sulfatases

Topics: Acid Phosphatase; Adolescent; Adult; Biopsy; Child; Child, Preschool; Cytoplasm; Female; Glycosaminoglycans; Histocytochemistry; Humans; Infant; Male; Microscopy, Electron; Middle Aged; Mucopolysaccharidoses; Sodium; Sweat; Sweat Glands

Topics: Acid Phosphatase; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography; Female; Galactosidases; Glucosidases; Glucuronidase; Glycoside Hydrolases; Hexosaminidases; Humans; Liver; Lysosomes; Mannose; Monosaccharides; Mucopolysaccharidoses

Topics: Acid Phosphatase; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Glycosaminoglycans; Histocytochemistry; Humans; Inclusion Bodies; Infant; Intellectual Disability; Lymphocytes; Male; Microscopy, Electron; Mucopolysaccharidoses; Retinitis Pigmentosa; Staining and Labeling

Topics: Acetates; Acid Phosphatase; Arabinose; Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Child; Chondroitin; Cystic Fibrosis; Fibroblasts; Fucose; Galactosidases; Glucosidases; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Lysosomes; Mannose; Mucopolysaccharidoses

Topics: Acid Phosphatase; Biopsy; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Cytoplasm; Female; Fibroblasts; Glycosaminoglycans; Histocytochemistry; Humans; Infant; Intellectual Disability; Lysosomes; Macrophages; Male; Microscopy, Electron; Mucopolysaccharidoses; Retinitis Pigmentosa; Schwann Cells; Skin; Syndrome

Topics: Acid Phosphatase; Alkaline Phosphatase; Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Catalase; Cell Line; Culture Techniques; Cystic Fibrosis; Cystinosis; Diffuse Cerebral Sclerosis of Schilder; Humans; Immunologic Deficiency Syndromes; Leukocytes; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Methods; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Muscular Dystrophies; Myotonia; Refsum Disease; Skin

Topics: Acid Phosphatase; Brain; Carbohydrate Metabolism, Inborn Errors; Chromatography, Gel; Fucose; Galactosidases; Glucosamine; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Hot Temperature; Humans; Intellectual Disability; Kidney; Mannose; Molecular Weight; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa; Spleen

Topics: Acid Phosphatase; Adolescent; Adult; Child; Child, Preschool; Female; Galactosidases; Glucuronidase; Glycoside Hydrolases; Humans; Hydrolases; Male; Mucopolysaccharidoses; Skin

Topics: Acid Phosphatase; Child; Child, Preschool; Coumarins; Female; Galactosidases; Glucuronidase; Glycoside Hydrolases; Humans; Hydrogen-Ion Concentration; Liver; Lysosomes; Male; Mucopolysaccharidoses; Statistics as Topic; Ultracentrifugation

Topics: Acid Phosphatase; Brain; Cerebrosides; Chemistry Techniques, Analytical; Demyelinating Diseases; Diffuse Cerebral Sclerosis of Schilder; Diseases in Twins; Galactosidases; Histocytochemistry; Humans; Hydro-Lyases; In Vitro Techniques; Kidney; Lipid Metabolism, Inborn Errors; Lipidoses; Liver; Microscopy, Electron; Mucopolysaccharidoses; Sulfatases