chondroitin and Mucopolysaccharidoses

Topics: Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Chondroitin; Cornea; Corneal Opacity; Dermatan Sulfate; Fibroblasts; Galactose; Glucosamine; Glycosaminoglycans; Heparin; Humans; Hyaluronic Acid; Hyaluronoglucosaminidase; Intellectual Disability; Male; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Proteoglycans; Retinitis Pigmentosa; Skin; Staining and Labeling; Sulfatases; Testis

Topics: Carbohydrate Metabolism, Inborn Errors; Chondroitin; Chromatography, Gel; Diffuse Cerebral Sclerosis of Schilder; Fabry Disease; Fucose; Galactosidases; Gangliosides; Gaucher Disease; Glycogen Storage Disease; Glycolipids; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Hydrogen-Ion Concentration; Infant; Isoenzymes; Lactose Intolerance; Lipid Metabolism, Inborn Errors; Lipidoses; Mannose; Mucopolysaccharidoses

Topics: Adolescent; Alkaline Phosphatase; Child; Child, Preschool; Chondrodysplasia Punctata; Chondroitin; Diagnosis, Differential; Female; Fractures, Spontaneous; Humans; Hyperostosis, Cortical, Congenital; Male; Middle Aged; Mucopolysaccharidoses; Osteitis Deformans; Osteoarthropathy, Primary Hypertrophic; Osteopetrosis; Osteosclerosis; Phosphoric Monoester Hydrolases; Radiography; Skin Diseases; Syndrome

Topics: Carbohydrate Metabolism, Inborn Errors; Chemical Phenomena; Chemistry; Chondroitin; Corneal Opacity; Gangliosides; Glycosaminoglycans; Histocytochemistry; Humans; Intellectual Disability; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa

Topics: Chemical Phenomena; Chemistry; Chondroitin; Corneal Opacity; Female; Glucuronidase; Glycosaminoglycans; Humans; Intellectual Disability; Male; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa

Topics: Adolescent; Bone and Bones; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Chondroitin; Chromosome Aberrations; Chromosome Disorders; Female; Fetus; Glycolipids; Glycosaminoglycans; Humans; Hypertrichosis; Infant; Intellectual Disability; Joint Diseases; Male; Microscopy, Electron; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa

Topics: Amniocentesis; Animals; Carbohydrate Metabolism, Inborn Errors; Chondroitin; Corneal Opacity; Culture Techniques; Dogs; Galactosidases; Genes, Recessive; Glycolipids; Glycosaminoglycans; Heparin; Humans; Intellectual Disability; Liver; Mucopolysaccharidoses; Prognosis; Retinitis Pigmentosa; Sex Chromosomes; Sulfates; Sulfur Isotopes

Topics: Autopsy; Carbohydrate Metabolism, Inborn Errors; Chondroitin; Chromosome Aberrations; Chromosome Disorders; Dwarfism; Fibroblasts; Glycosaminoglycans; Histocytochemistry; Humans; Hyaluronic Acid; Intellectual Disability; Joint Diseases; Metaplasia; Microscopy, Electron; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Osteochondritis; Retinitis Pigmentosa

Topics: Animals; Ascorbic Acid; Avian Sarcoma Viruses; Basement Membrane; Cartilage; Cell Aggregation; Cell Differentiation; Chick Embryo; Chondroitin; Collagen; Connective Tissue; Culture Media; Epiphyses; Glycosaminoglycans; Humans; Hyaluronic Acid; In Vitro Techniques; Lysosomes; Morphogenesis; Mucopolysaccharidoses; Mucoproteins; Nucleoside Diphosphate Sugars; Osteogenesis; Spinal Cord; Stress, Mechanical; Uracil Nucleotides; Vitamin A

Using a high performance liquid chromatography method, degradation products of heparan sulfate (HS) and dermatan sulfate (DS) were investigated after incubation of control and alpha-L-iduronidase-deficient fibroblasts with HS or DS. Characteristic elution profiles of the degradation products were obtained from the respective alpha-L-iduronidase-deficient fibroblasts. Moreover, alpha-L-iduronidase in control fibroblasts was resolved into two distinct components, forms A and B, on DEAE-cellulose column chromatography. Form A alpha-L-iduronidase could degrade HS, but not DS. Conversely, form B alpha-L-iduronidase could not degrade HS, but could degrade DS.

Topics: Chondroitin; Chromatography, High Pressure Liquid; Dermatan Sulfate; Fibroblasts; Glycosaminoglycans; Glycoside Hydrolases; Heparitin Sulfate; Humans; Iduronidase; Liver; Mucopolysaccharidoses; Skin

Urinary dermatan sulfate (DS) and heparan sulfate (HS) were purified from mucopolysaccharidosis patients. DS shows average mol. wt 8600-12,000 (approx. one half of tissue DS), iduronic acid content 99.1-99.6% (81.8% in tissue DS), core peptide mostly di- or tri-peptide (--Ser--Gly--or--Ser--Gly--Glu--). Molecular weight of HS ranged from 2500 to 20,000, averaging about 5000. Highly sulfated HS was found in the low molecular weight fraction, and no bound core peptide. By contrast, HS in the high molecular weight fraction bound one sulfate per repeating unit, which include core peptide.

Topics: Amino Acids; Animals; Chondroitin; Dermatan Sulfate; Glycosaminoglycans; Heparitin Sulfate; Humans; Male; Molecular Weight; Mucopolysaccharidoses; Skin; Swine

A sensitive method was developed for the separation and quantitation of four unsaturated disaccharides (delta Di-0S, delta Di-4S, delta Di-6S, and delta Di-diS) by high performance liquid chromatography. The unsaturated disaccharides were coupled with a fluorescent compound, 2-aminopyridine. Complete separation of the resulting pyridylamino derivatives was achieved on a column of muBondapak-C18 with 8 mM KH2PO4-Na2HPO4 (pH 6.0)/methanol (30/l, by volume) as a mobile phase. There was a linear relationship between the fluorescence emission (peak height), and the amount of each authentic disaccharide used for the coupling reaction. This method was applied to analyze commercially available chondroitin sulfates A and C, dermatan sulfate, and urinary glycosaminoglycans obtained from patients with mucopolysaccharidosis after digestion with chondroitinases. The data indicated that the present method is useful for the separation and quantitation of nmol-pmol levels of the unsaturated disaccharides produced from chondroitin sulfate isomers by chondroitinases and can be used for their structural characterization.

Topics: Aminopyridines; Animals; Cartilage; Chondroitin; Chondroitin Sulfates; Chondroitinases and Chondroitin Lyases; Chondroitinsulfatases; Chromatography, High Pressure Liquid; Disaccharides; Fluorescent Dyes; Glycosaminoglycans; Humans; Isomerism; Mucopolysaccharidoses; Sharks; Skin; Swine; Whales

Radiolabelled disaccharide substrates for alpha-L-iduronidase, beta-D-glucuronidase, and sulfoiduronate sulfatase have been prepared from dermatan sulfate by application in sequence of N-deacetylation, deaminative cleavage, and reduction with NaBT4. The yield of disaccharides was approximately 87% of the total oligosaccharide fraction. Five disaccharides were isolated and tentatively identified. The major disaccharide, O-(alpha-L-idopyranosyluronic acid)-(1 leads to 3)-2,5-anhydro-D-[1-3H]talitol 4-sulfate (IdoA-anT4S), represented approximately 75% of the total disaccharide fraction. The other disaccharides were O-(alpha-L-idopyranosyluronic acid 2-sulfate)-(1 leads to 3)-2,5-anhydro-D-[1-3H]talitol 4-sulfate (IdoA2S-anT4S), O-(beta-D-glucopyranosyluronic acid)-(1 leads to 3)-2,5-anhydro-D-[1-3H]talitol 4-sulfate (GlcA-anT4S), O-(beta-D-glucopyranosyluronic acid)-(1 leads to 3)-2,5-anhydro-D-[1-3H]talitol 6-sulfate (GlcA-anT6S), and O-(alpha-L-idopyranosyluronic acid)-(1 leads to 3)-2,5-anhydro-D-[1-3H]talitol (IdoA-anT), which represented approximately 4.5, 11.2, 1.0, and 1.8%, respectively, of the total disaccharide fraction. When incubated with cultured skin-fibroblasts from normal controls, IdoA-anT4S was shown to be a sensitive substrate for alpha-L-iduronidase to produce 2,5-anhydro-D-talitol 4-sulfate (anT4S). Activity toward IdoA-anT4S was not observed with fibroblast homogenates from alpha-L-iduronidase-deficient patients (Mucopolysaccharidosis Type I). Similarly, normal-fibroblast homogenates degraded GlcA-anT6S to anT6S, and GlcA-anT4S to anT4S, at a rate 6 to 8 times greater than found for fibroblasts from beta-D-glucuronidase-deficient patients (Mucopolysaccharidosis Type VII). IdoA-anT4S was hydrolysed by alpha-L-iduronidase at a rate 365 times greater than that for IdoA-anT. Sulfation of the anhydro-D-[1-3H]talitol residues is an important structural determinant in the mechanism of action of alpha-L-iduronidase on disaccharide substrates. IdoA2S-anT4S was degraded to IdoA-anT4S and then to anT4S by normal-fibroblast homogenates, whereas fibroblasts from alpha-L-iduronidase-deficient and sulfoiduronate sulfatase-deficient (Mucopolysaccharidosis Type II) patients produced considerably decreased levels of anT4s and IdoA-anT4S (and anT4S), respectively.

Topics: Chondroitin; Dermatan Sulfate; Fibroblasts; Glucuronidase; Glycoside Hydrolases; Humans; Iduronate Sulfatase; Iduronidase; Mucopolysaccharidoses; Skin; Sulfatases; Tritium

Topics: Chondroitin; Chondroitin Sulfates; Chondroitinases and Chondroitin Lyases; Chromatography, High Pressure Liquid; Dermatan Sulfate; Disaccharides; Glycosaminoglycans; Humans; Mucopolysaccharidoses

Topics: Chondroitin; Dermatan Sulfate; Frozen Sections; Glycosaminoglycans; Heparitin Sulfate; Humans; Mucopolysaccharidoses; Skin; Staining and Labeling

Dermatan sulfate-chondroitin sulfate copolymers with a high content of dermatan sulfate are stored in cultured human skin fibroblasts from patients affected with mucopolysaccharidosis VI (Maroteaux-Lamy disease). Characterization of the storage material provided evidence that hyaluronidase-like enzymes are not present in these fibroblasts. This is based on the following observations: (i) dermatan sulfate chains stored intracellularly show no reduction of molecular size as compared with intact chains isolated from the extra-cellular space; (ii) the stored dermatan sulfate chains lack reducible end groups generated by endoglycosidases; (iii) homogenates of human skin fibroblasts do not degrade hyaluronate and (iv) the stored dermatan sulfate chains are degraded by testes hyaluronidase.

Topics: Cells, Cultured; Chondroitin; Dermatan Sulfate; Fibroblasts; Glycosaminoglycans; Humans; Hyaluronoglucosaminidase; Molecular Weight; Mucopolysaccharidoses; Mucopolysaccharidosis VI; Skin

The high-performance liquid chromatographic (HPLC) method for the determination of unsaturated sulfated disaccharides is a comprehensive and reliable method which expedites ensymatic studies of isomeric chondroitin sulfates. Responses for these unsaturated disaccharides derived from urinary chondroitin sulfates were linear from 100 ng to 10 micrograms injected and good quantitation was obtained for 25 microliters or less of samples placed on the column. This method which is more sensitive and accurate than methods now being used has considerable potential for the chemical diagnosis of patients with mucopolysaccharidoses and for the clarification of glycosaminoglycan structure. The isomeric chondroitin sulfates in urines from patients with mucopolysaccharidoses were studied by enzyme digestion with chondroitinases followed by HPLC determination of the sulfated unsaturated disaccharides produced. Evaluation by HPLC of the unsaturated 4-sulfated disaccharide produced by digestion of the urinary GAG with chondroitinases ABC and AC revealed rapidly and quantitatively the large amounts of dermatan sulfate present in Hurler, Hunter, and Maroteaux-Lamy urines. Chondroitin 4-sulfate predominated in Sanfilippo urinary isomeric chondroitin sulfates whereas chondroitin 6-sulfate and chondroitin 4-sulfate were shown to be present in nearly equal amounts in Morquio urine. An oversulfated chondroitin sulfate was detected in small amounts in some of these urines. This was demonstrated by the detection of an unsaturated disulfated disaccharide after digestion with chondroitinase ABC but not with chondroitinase AC.

Topics: Chondroitin; Chondroitin Sulfates; Chondroitinases and Chondroitin Lyases; Chromatography, High Pressure Liquid; Glycosaminoglycans; Humans; Isomerism; Mucopolysaccharidoses

A 14-year-old boy was found to excrete excessive amounts of acidic glycosaminoglycans which were predominantly chondroitin 4-sulfate and chondroitin 6-sulfate. Clinical features included dwarfism, mental retardation, coarse facies, deformities of the spine, hip joints and thorax, and granulations in leucocytes. The clinical and biochemical features found in this boy were compared with the known types of mucopolysaccharidosis and it has been concluded that this case is a new type of mucopolysacchariduria.

Topics: Adolescent; Chondroitin; Chondroitin Sulfates; Dwarfism; Glycosaminoglycans; Humans; Intellectual Disability; Male; Mucopolysaccharidoses

A 17-year-old patient clinically manifesting gargoyle face, dwarfism, skeletal bone deformity, mild mental retardation and benign course was presented. Biochemically, increased urinary excretion of acidic glycosaminoglycans was confirmed and chondroitin 4-sulfate and chondroitin 6-sulfate were substantiated to be the major components of the acid mucopolysacchariduria. Light microscopically, variable numbers of foam cells were observed in the biopsy materials of the lymph nodes, liver and skin, as well as in the smears of bone marrow aspirates. In the liver, the parenchymal cells appeared vacuolated. Histochemically, accumulation of sulfated acid glycosaminoglycans was demonstrated in the cytoplasm of the foam cells proliferating in these tissues, as well as in the liver cells. Electron microscopically, all of these storage cells were found to contain numerous, membrane-bound, vacuolar inclusions filled with flocculent, finely reticulogranular materials of low electron density similar to those seen in the storage cells of Hurler, Hunter or Sanfilippo's syndrome. Empty vacuoles were often coexistent. Accordingly, this case should be termed "chondroitin 4- and 6-sulfate mucopolysaccharidosis", with emphasis on the possibility of a new type of genetic mucopolysaccharidosis.

Topics: Adolescent; Chondroitin; Chondroitin Sulfates; Humans; Liver; Lymph Nodes; Male; Mucopolysaccharidoses; Skin

The approach, identification of clinical phenotype followed by lysosomal enzyme assays in cell culture, used in the classification of the genetic mucopolysaccharidoses I-VI has been applied to the chondroitinsulphaturias. There was evidence of heterogeneity in the first 9 patients reported.

Topics: Cells, Cultured; Chondroitin; Chondroitin Sulfates; Genotype; Glucuronidase; Humans; Infant; Lysosomes; Male; Mucopolysaccharidoses; Phenotype

Oligosaccharides of testicular hyaluronidase-degraded dermatan sulfate were separated from undegraded dermatan sulfate by chromatography on Sephadex G-75, but not by chromatography on Sephadex G-25. All but the smallest of these oligosaccharides were recovered in excellent yield following dialysis and precipitation with cetyl pyridinium chloride (CPC). G-75 chromatography of dialyzed, concentrated Hunter urine mucopolysaccharides precipitated with CPC resolved most of the large dermatan sulfate into a void volume related peak which was free of heparan sulfate. Decreasing amounts of dermatan sulfate oligosaccharides were eluted with sephadex-retarded polysaccharides, including small amounts which appeared with otherwise pure heparan sulfate.

Topics: Child; Chondroitin; Chromatography, Gel; Dermatan Sulfate; Female; Glycosaminoglycans; Heparitin Sulfate; Hexosamines; Humans; Hyaluronoglucosaminidase; Indicators and Reagents; Male; Mucopolysaccharidoses; Spectrophotometry; Sulfuric Acids; Testis

Topics: Chondroitin; Chromatography, Ion Exchange; Dermatan Sulfate; Diagnosis, Differential; Humans; Methods; Mucopolysaccharidoses

Glycosaminoglycans were isolated from the urines of 46 patients with mucopolysaccharidosis; 11 with Type I (Hurler), 8 with Type II (Hunter), 16 with Type III (Sanfilippo A and B), 9 with Type V (Scheie), one with Type VI (Marateaux-Lamy), and one unclassified. All 46 patients excreted in their urine excessive amounts of dermatan sulfate, heparan sulfate or both. In addition, patients of certain types excreted excessive amounts of chondroitin sulfates A and/or C. There is a trend in each type of the disease towards the same carbazole/orcinol ratio, glucosamine/galactosamine ratio and glycosaminoglycan composition. Molecular weight distribution of the urinary glycosaminoglycans by gel filtration from Sephadex G-200 is characteristic for each different type of mucopolysaccharidosis and is distinguished from normal controls and patients without mucopolysaccharidosis. Preparation of elution diagrams from Sephadex G-200 allows an estimation of the composition of the glycosamino-glycans. Practically all heparan sulfate and a sizable part of dermatan sulfate from the urinary glycosaminoglycans of all these patients have been highly degraded. In all the patients in which the specific enzyme defect was demonstrated, the assignment of the type of mucopolysaccharidosis, on the basis of the elution diagrams, was correct. Patients with mucopolysaccharidosis Type V displayed two conspicuously different types of elution patterns, suggesting heterogeneity. Indeed, only a portion of these patients showed alpha-L- iduronidase deficiency. Carriers had normal urinary glycosaminoglycan output and composition and exhibited normal elution diagrams.

Topics: Adolescent; Adult; Bone and Bones; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chondroitin; Dermatan Sulfate; Female; Glycosaminoglycans; Heparitin Sulfate; Humans; Hypertrichosis; Infant; Intellectual Disability; Joint Diseases; Male; Mucopolysaccharidoses; Mucopolysaccharidosis I; Mucopolysaccharidosis II; Retinitis Pigmentosa

Topics: Animals; Cattle; Cattle Diseases; Chondroitin; Chromatography, Gas; Chromatography, Ion Exchange; Dermatan Sulfate; Dwarfism; Electrophoresis, Cellulose Acetate; Glycosaminoglycans; Hexosamines; Mucopolysaccharidoses; Uronic Acids

Topics: Animals; Autoradiography; Brain; Catalysis; Cattle; Cells, Cultured; Child; Chondroitin; Chromatography, Ion Exchange; Electrophoresis; Female; Glycosaminoglycans; Humans; Hyaluronoglucosaminidase; Lyases; Male; Mucopolysaccharidoses; Mucopolysaccharidosis III; Neuroglia; Sulfur Radioisotopes; Testis

Topics: Catechols; Chondroitin; Female; Fibroblasts; Humans; Hydrogen-Ion Concentration; Kinetics; Mucopolysaccharidoses; Mucopolysaccharidosis VI; Nitro Compounds; Placenta; Pregnancy; Sulfatases; Uridine Diphosphate N-Acetylgalactosamine

Topics: Chondroitin; Dermatan Sulfate; Humans; Hyaluronic Acid; Intellectual Disability; Mucopolysaccharidoses

Topics: Cells, Cultured; Chondroitin; Fibroblasts; Humans; Immunodiffusion; Liver; Mucopolysaccharidoses; Mutation; Skin; Sulfatases; Syndrome

Myelopathy due to compression of the cervical spinal cord by thickened dura developed in a patient with Maroteaux-Lamy syndrome. During the last trimester of pregnancy there was severe neurological deterioration with spastic quadriparesis and impairment of sphincter function. Two months after delivery ther had been no improvement, so a cervical laminectomy and longitudinal splitting of the dura from C-5 to the foramen magnum was done. Good return of function resulted.

Topics: Adult; Carpal Tunnel Syndrome; Cervical Vertebrae; Chondroitin; Dura Mater; Female; Humans; Mucopolysaccharidoses; Pregnancy; Pregnancy Complications; Spinal Cord Compression; Syndrome

Topics: Chondroitin; Diagnosis, Differential; Female; Galactosidases; Glycoside Hydrolases; Heterozygote; Hexosaminidases; Humans; Iduronidase; Leukocytes; Male; Mucopolysaccharidoses; Mucopolysaccharidosis I; Mucopolysaccharidosis III; Syndrome

Arylsulfatase B deficiency was demonstrated in peripheral leukocytes, cultured skin fibroblasts, and a lymphoid line derived from a patient with MLS. The patient's parents demonstrated levels of arylsulfatase B that were intermediate between those found in patient and those in control subjects. The activity (mean plus or minus SD) in leukocytes from normal subjects, the patient's parents, and the patient was 113.7 plus or minus 36.2, 31.0, and 5.2 nmol 4-nitrocatechol/mg protein/hr, respectively. In skin fibroblasts of the same subjects the activity was 145.2 plus or minus 41.6, 58.5, and 7.0, respectively. Nine other lysosomal enzymes were normal in skin fibroblasts of the patient. No arylsulfatase B activity was detected in a lymphoid line established from the patient with MLS. The arylsulfatase B activity in cultured amniotic fluid cells from 10 normal pregnancies was 203.2 plus or minus 49.9.

Topics: Amniotic Fluid; Arylsulfatases; Cell Line; Cells, Cultured; Child, Preschool; Chondroitin; Cystic Fibrosis; Female; Fibroblasts; Galactosemias; Gaucher Disease; Glycogen Storage Disease Type II; Heterozygote; Homozygote; Humans; Leukocytes; Leukodystrophy, Metachromatic; Lymphoid Tissue; Lysosomes; Male; Metabolism, Inborn Errors; Mucopolysaccharidoses; Mucopolysaccharidosis II; Mucopolysaccharidosis VI; Pregnancy; Skin; Sulfatases

Topics: Child; Chondroitin; Fibroblasts; Glycosaminoglycans; Glycoside Hydrolases; Humans; Iduronidase; Male; Mucopolysaccharidoses; Sulfates; Sulfur Radioisotopes

Topics: Child; Chondroitin; Fibroblasts; Glycoside Hydrolases; Humans; Male; Mucopolysaccharidoses; Sulfates

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: Adult; Child; Child, Preschool; Chondroitin; Female; Hand; Hand Deformities, Acquired; Humans; Intellectual Disability; Male; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Occupational Therapy; Radiography; Retinitis Pigmentosa; Syndrome

Topics: Chondroitin; Diagnosis, Differential; Humans; Intellectual Disability; Lectins; Lymphocytes; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa; Sulfates; Sulfur Radioisotopes; Syndrome; Thymidine; Tritium

Topics: Carbon Radioisotopes; Cell Line; Chondroitin; Chromatography, Ion Exchange; Chromatography, Paper; Dermatan Sulfate; Electrophoresis; Fibroblasts; Galactosamine; Glucosamine; Humans; Lyases; Molecular Conformation; Mucopolysaccharidoses; Sulfatases; Sulfur Radioisotopes; Sulfuric Acids

Topics: Biopsy; Chondroitin; Fibroblasts; Hexosamines; Humans; Intellectual Disability; Leukodystrophy, Metachromatic; Lysosomes; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Skin; Sulfatases; Syndrome

Topics: Cells, Cultured; Chondroitin; Fibroblasts; Galactosamine; Humans; Intellectual Disability; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa; Skin; Sulfatases; Sulfuric Acids; Syndrome

Topics: Blood Transfusion; Child Care; Child, Preschool; Chondroitin; Education of Intellectually Disabled; Enzyme Therapy; Female; Human Rights; Humans; Infant; Leukocyte Transfusion; Male; Mucopolysaccharidoses; Retinitis Pigmentosa; Syndrome; Transplantation, Homologous

Topics: Bone Diseases, Developmental; Chondroitin; Electroretinography; Face; Fibroblasts; Fundus Oculi; Genetic Variation; Glycosaminoglycans; Hearing Disorders; Heparin; Humans; Intelligence; Male; Mucopolysaccharidoses; Pigmentation Disorders; Radiography; Skin; Sulfatases; Sulfates; Syndrome; Visual Acuity

Topics: Amniocentesis; Amniotic Fluid; Chondroitin; Chromatography, Ion Exchange; Chromatography, Paper; Female; Fetus; Galactosamine; Glucosamine; Glycopeptides; Glycosaminoglycans; Heparitin Sulfate; Hexoses; Humans; Hyaluronic Acid; Hyaluronoglucosaminidase; Mucopolysaccharidoses; Pregnancy; Sulfates; Sulfuric Acids; Time Factors; Uronic Acids

Topics: Acetamides; Borohydrides; Cartilage; Chondroitin; Chromatography, Gas; Evaluation Studies as Topic; Galactosamine; Glucosamine; Glycosaminoglycans; Humans; Hyaluronic Acid; Intellectual Disability; Methods; Mucopolysaccharidoses; Sulfuric Acids; Syndrome; Time Factors

Topics: Carbohydrate Metabolism, Inborn Errors; Cell Line; Cells, Cultured; Chondroitin; Chromatography, DEAE-Cellulose; Chromatography, Gel; Fibroblasts; Galactosidases; Glucosidases; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Lysosomes; Mucopolysaccharidoses; Sulfatases; Sulfur Radioisotopes; Syndrome; Uronic Acids

Topics: Blood Transfusion; Chondroitin; Corneal Opacity; Glycosaminoglycans; Humans; Mucopolysaccharidoses; Mucopolysaccharidosis I; Mucopolysaccharidosis IV; Retinitis Pigmentosa; Sulfates; Syndrome

Topics: Biotransformation; Chondroitin; Corneal Opacity; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Intellectual Disability; Lysosomes; Mucopolysaccharidoses; Retinitis Pigmentosa; Sulfatases

Topics: Child; Child, Preschool; Chondroitin; Dwarfism; Female; Glycosaminoglycans; Humans; Immunity, Cellular; Immunologic Deficiency Syndromes; Lymphopenia; Mucopolysaccharidoses; Nephrotic Syndrome; Radiography; Spectrum Analysis

Topics: Adult; Basement Membrane; Biopsy; Chondroitin; Conjunctiva; Connective Tissue Cells; Cornea; Corneal Opacity; Cytoplasm; Epithelial Cells; Fibroblasts; Glycosaminoglycans; Histiocytes; Histocytochemistry; Humans; Inclusion Bodies; Joint Diseases; Male; Microscopy, Electron; Mucopolysaccharidoses; Phenotype; Plasma Cells; Retinitis Pigmentosa; Schwann Cells; Syndrome

Topics: Bone Marrow Cells; Bone Marrow Examination; Carbohydrate Metabolism, Inborn Errors; Chondroitin; Diagnosis, Differential; Glycosaminoglycans; Humans; Leukocytes; Mucopolysaccharidoses; Retinitis Pigmentosa; Staining and Labeling

Topics: Biopsy; Carbohydrate Metabolism, Inborn Errors; Chondroitin; Conjunctiva; Corneal Dystrophies, Hereditary; Corneal Opacity; Endoplasmic Reticulum; Glycosaminoglycans; Golgi Apparatus; Humans; Hyalin; Inclusion Bodies; Intellectual Disability; Macula Lutea; Microscopy, Electron; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Plasma Cells; Retinitis Pigmentosa

Topics: Aging; Cartilage; Cellulose; Child, Preschool; Chondroitin; Electrophoresis; Epiphyses; Femur; Galactosamine; Glucosamine; Humans; Humerus; Infant; Lumbar Vertebrae; Lyases; Mucopolysaccharidoses; Sulfuric Acids; Thoracic Vertebrae

Topics: Child; Child, Preschool; Chondroitin; Consanguinity; Corneal Opacity; Female; Glycosaminoglycans; Heparitin Sulfate; Humans; Male; Mucopolysaccharidoses; Syndrome

Topics: Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Chondroitin; Conjunctiva; Cornea; Corneal Opacity; Electrophoresis; Fibroblasts; Glycosaminoglycans; Histocytochemistry; Humans; Hyaluronic Acid; Intellectual Disability; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa; Skin; Syndrome; Uronic Acids

Topics: Adolescent; Adult; Carbazoles; Carbohydrate Metabolism, Inborn Errors; Child; Chondroitin; Corneal Opacity; Female; Glycosaminoglycans; Heparitin Sulfate; Humans; Intellectual Disability; Male; Methods; Mucopolysaccharidoses; Resorcinols; Retinitis Pigmentosa; Uronic Acids

Topics: Adolescent; Carbohydrate Metabolism, Inborn Errors; Child; Chondroitin; Female; Glycosaminoglycans; Humans; Male; Mucopolysaccharidoses; Retinitis Pigmentosa

Topics: Adolescent; Adult; Cetylpyridinium; Chemical Precipitation; Child; Chondroitin; Chromatography, Ion Exchange; Ethanol; Galactosamine; Glucosamine; Glycosaminoglycans; Humans; Hyaluronic Acid; Kidney; Kidney Cortex; Kidney Medulla; Lyases; Male; Middle Aged; Mucopolysaccharidoses; Peptide Hydrolases; Retinitis Pigmentosa; Uronic Acids

Topics: Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chondroitin; Chromatography; Corneal Opacity; Electrophoresis; Female; Galactosamine; Glycosaminoglycans; Heparitin Sulfate; Hexosamines; Humans; Hyaluronic Acid; Male; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa; Sulfates; Uronic Acids

Topics: Adolescent; Adult; Age Factors; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chondroitin; Electrophoresis; Female; Glycosaminoglycans; Heparin; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Mucopolysaccharidoses; Puberty; Retinitis Pigmentosa; Sex Factors; Syndrome

Topics: Carbohydrate Metabolism, Inborn Errors; Chondroitin; Chromatography, Gas; Chromatography, Gel; Corneal Opacity; Glycosaminoglycans; Heparin; Hexosamines; Humans; Hydrolysis; Intellectual Disability; Methanol; Monosaccharides; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa; Uronic Acids

Topics: Blood Transfusion; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Chondroitin; Female; Glycosaminoglycans; Humans; Leukocytes; Male; Mucopolysaccharidoses; Plasma; Retinitis Pigmentosa; Time Factors

Topics: Adolescent; Adult; Age Factors; Aged; Child; Child, Preschool; Chondroitin; Chromatography, Gas; Chromatography, Ion Exchange; Diagnosis, Differential; Electrophoresis; Female; Galactose; Glycosaminoglycans; Heparitin Sulfate; Hexosamines; Humans; Hyaluronoglucosaminidase; Lyases; Male; Methods; Middle Aged; Mucopolysaccharidoses; Retinitis Pigmentosa; Serine; Sulfuric Acids; Testis; Xylose

Topics: Carbohydrate Metabolism, Inborn Errors; Child; Chondroitin; Glycosaminoglycans; Humans; Liver; Male; Mucopolysaccharidoses; Myocardium; Spleen; Sulfates; Uronic Acids

Topics: Carbon Isotopes; Cellulose; Child; Chondroitin; Culture Techniques; Electrophoresis; Evaluation Studies as Topic; Fibroblasts; Glycosaminoglycans; Humans; Hyaluronic Acid; Hyaluronoglucosaminidase; Male; Membranes, Artificial; Mucopolysaccharidoses; Pronase; Skin; Sulfur Isotopes; Sulfuric Acids; Testis

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: Carbohydrate Metabolism, Inborn Errors; Chondroitin; Chromatography, Thin Layer; Glycosaminoglycans; Heparitin Sulfate; Humans; Hyaluronic Acid; Intellectual Disability; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa

Catabolism of sulfated mucopolysaccharide by normal human fibroblasts in culture is progressively inhibited as the pH of the growth medium is raised from 6.8 to 8.0. The final cell density increases with the change in pH. The capacity to degrade mucopolysaccharide is rapidly restored by lowering the pH, and this reactivation does not require protein synthesis. Such pH dependence is not observed in cells from patients with genetic impairment of mucopolysaccharide degradation, such as the Hurler or Hunter syndromes. These results may have relevance not only to studies of mucopolysaccharide metabolism in cell culture, but also to the use of metachromasia as a genetic marker and to the observation that normal fibroblasts are released from contact inhibition of growth as the pH of the growth medium is raised.

Topics: Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Chondroitin; Contact Inhibition; Corneal Opacity; Fibroblasts; Glycosaminoglycans; Humans; Hydrogen-Ion Concentration; Intellectual Disability; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa; Skin; Sulfur Isotopes; Sulfuric Acids

Topics: Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chondroitin; Corneal Opacity; Female; Glycosaminoglycans; Humans; Infant; Intellectual Disability; Male; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa

Topics: Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Chondroitin; Endocytosis; Enzyme Induction; Female; Fibroblasts; Galactosidases; Glucosidases; Glycosaminoglycans; Glycoside Hydrolases; Humans; Intellectual Disability; Lysosomes; Male; Mucopolysaccharidoses; Retinitis Pigmentosa; Time Factors

Topics: Carbohydrate Metabolism, Inborn Errors; Chondroitin; Corneal Opacity; Glycosaminoglycans; Humans; Intellectual Disability; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa

Topics: Bone and Bones; Carbohydrate Metabolism, Inborn Errors; Chondroitin; Chromatography; Chromosome Aberrations; Chromosome Disorders; Glycosaminoglycans; Humans; Hypertrichosis; Intellectual Disability; Joint Diseases; Mucopolysaccharidoses; Retinitis Pigmentosa

Topics: Alleles; Carbohydrate Metabolism, Inborn Errors; Chondroitin; Corneal Opacity; Female; Fibroblasts; Glycosaminoglycans; Homozygote; Humans; Intellectual Disability; Male; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Mutation; Phenotype; Retinitis Pigmentosa

Topics: Alveolar Process; Child; Chondroitin; Gingival Hyperplasia; Humans; Jaw Abnormalities; Male; Mucopolysaccharidoses; Oral Manifestations; Periodontal Diseases; Skull

Topics: Carbohydrate Metabolism, Inborn Errors; Chondroitin; Chromatography, Paper; Corneal Opacity; Creatinine; Electrocardiography; Female; Glycosaminoglycans; Hepatomegaly; Humans; Intellectual Disability; Middle Aged; Mucopolysaccharidoses; Radiography

Topics: Adolescent; Adult; Carbohydrate Metabolism, Inborn Errors; Child; Chondroitin; Corneal Opacity; Female; Galactosamine; Glycosaminoglycans; Hexosamines; Humans; Intelligence; Male; Methods; Mucopolysaccharidoses; Radiography; Retinitis Pigmentosa; Sulfates; Visual Acuity

Topics: Adolescent; Amino Acids; Child; Child, Preschool; Chondroitin; Chromatography, Ion Exchange; Chromatography, Paper; Electrophoresis, Paper; Ethanol; Female; Galactosamine; Glucosamine; Glycosaminoglycans; Hexosamines; Hexoses; Humans; Hyaluronic Acid; Male; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Proteus; Serine; Testis; Uronic Acids

Topics: Chemistry Techniques, Analytical; Chondroitin; Glycosaminoglycans; Humans; Methods; Mucopolysaccharidoses; Retinitis Pigmentosa

Topics: Chondroitin; Chromatography, Paper; Culture Techniques; Fibroblasts; Glycoside Hydrolases; Humans; Lactones; Liver; Mucopolysaccharidoses; Sulfuric Acids; Uronic Acids

Topics: Child; Child, Preschool; Chondroitin; Female; Humans; Mucopolysaccharidoses; Sulfates

Topics: Adolescent; Chondroitin; Corneal Opacity; Craniofacial Dysostosis; Diagnosis, Differential; Dwarfism; Encephalocele; Female; Humans; Mucopolysaccharidoses; Pneumoencephalography; Syndrome

Topics: Adolescent; Adult; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Chondroitin; Chromatography, Paper; Female; Flavobacterium; Glucuronates; Glycosaminoglycans; Glycoside Hydrolases; Humans; Male; Methods; Middle Aged; Mucopolysaccharidoses; Retinitis Pigmentosa; Sulfatases; Sulfuric Acids; Uronic Acids

Topics: Adolescent; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chondroitin; Chromatography; Corneal Opacity; Diagnosis, Differential; Female; Glycosaminoglycans; Heparin; Humans; Hyaluronic Acid; Infant; Intellectual Disability; Male; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa

Topics: Carbohydrate Metabolism, Inborn Errors; Chondroitin; Culture Techniques; Fibroblasts; Galactosidases; Genes, Recessive; Glycosaminoglycans; Humans; Intellectual Disability; Liver; Lysosomes; Molecular Biology; Mucopolysaccharidoses; Mucoproteins; Retinitis Pigmentosa; Sex Chromosome Aberrations; Sulfates; Sulfur Isotopes

Topics: Adolescent; Amino Acids; Child; Child, Preschool; Chondroitin; Chromatography; Electrophoresis; Glucosamine; Glycosaminoglycans; Heparin; Humans; Hyaluronic Acid; Mucopolysaccharidoses; Peptides; Sulfates

Topics: Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Chondroitin; Glycosaminoglycans; Humans; Hyaluronic Acid; Intellectual Disability; Male; Mucopolysaccharidoses

Topics: Adolescent; Bone and Bones; Carbohydrate Metabolism, Inborn Errors; Child; Chondroitin; Corneal Opacity; Female; Heparin; Humans; Hypertrichosis; Intellectual Disability; Joint Diseases; Male; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa

Topics: Acids; Carbohydrate Metabolism, Inborn Errors; Chondroitin; Culture Techniques; Cystic Fibrosis; Fibroblasts; Gaucher Disease; Glycosaminoglycans; Humans; Hyaluronic Acid; Lipid Metabolism, Inborn Errors; Lipidoses; Marfan Syndrome; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa; Sulfates

A method is proposed for the measurement of glycosaminoglycans (GAG) on 5-10 ml of plasma. It is based on the adsorption of GAG on small ECTEOLA columns followed by measurement of the hexuronic acid in the NaCl eluates. Routine use of the method has indicated the presence of a GAG fraction that adsorbs readily on ECTEOLA ("free" GAG) and of another that adsorbs on it only after treatment with papain ("bound" GAG). "Free" and "bound" GAG have been measured in normal adults, normal children, and children affected by mucopolysaccharidosis type I; the results obtained are in good agreement with those previously reported in the literature.Various analyses performed on purified "free" and "bound" GAG have confirmed that chondroitin-4-sulfate is the main glycosaminoglycan of normal human plasma where it occurs both free and bound to protein and at various levels of sulfation. The presence of small amounts of heparan sulfate and keratan sulfate has also been demonstrated. Metabolic experiments performed in rabbits have indicated that plasma GAG derive from peripheral tissues and increase sharply after papain injection. In young animals the "free" GAG have a faster turnover than the "bound," possibly a reflection of active processes of remodeling and calcification. The synthesis of the "free" and "bound" GAG, as measured with (85)S-sulfate incorporation, seems to proceed at the same rate, and the hypothesis has been advanced that as a result of the action of tissue proteases, part of the "bound" GAG may be transformed into "free" GAG, the latter being immediately extruded from the tissues into the circulatory system.

Topics: Adolescent; Adult; Animals; Child; Child, Preschool; Chondroitin; Chromatography; Collagen Diseases; Female; Glycosaminoglycans; Heparin; Humans; Hyaluronoglucosaminidase; In Vitro Techniques; Keratins; Male; Methods; Mucopolysaccharidoses; Papain; Rabbits; Spectrophotometry; Sulfur Isotopes

Topics: Adolescent; Adult; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chondroitin; Connective Tissue; Corneal Opacity; Ehlers-Danlos Syndrome; Female; Glycosaminoglycans; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Marfan Syndrome; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa

Topics: Chondroitin; Chromatography, Gel; Diffusion; Glycosaminoglycans; Heparin; Humans; Methods; Molecular Weight; Mucopolysaccharidoses; Sulfuric Acids; Ultracentrifugation

Topics: Adolescent; Bone Diseases; Child; Chondroitin; Cleidocranial Dysplasia; Female; Glycosaminoglycans; Heparin; Humans; Hyaluronic Acid; Intellectual Disability; Keratins; Male; Mucopolysaccharidoses; Osteitis Deformans; Osteogenesis Imperfecta; Scoliosis

Topics: Adolescent; Carbohydrate Metabolism, Inborn Errors; Child; Chondroitin; Chromatography; Chromatography, Thin Layer; Female; Glycosaminoglycans; Heparin; Humans; Intellectual Disability; Male; Methods; Mucopolysaccharidoses; Retinitis Pigmentosa; Sulfates

Topics: Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chondroitin; Chromatography; Female; Glucuronates; Glycosaminoglycans; Heterozygote; Humans; Intellectual Disability; Male; Mucopolysaccharidoses; Retinitis Pigmentosa; Sulfates

Topics: Child; Chondroitin; Culture Techniques; Cystic Fibrosis; Fibroblasts; Glycosaminoglycans; Histocytochemistry; Humans; Hyaluronic Acid; Marfan Syndrome; Mucopolysaccharidoses; Skin; Staining and Labeling

Topics: Animals; Centrifugation, Density Gradient; Chick Embryo; Chondroitin; Glycosaminoglycans; Humans; Hyaluronoglucosaminidase; Liver; Lysosomes; Mucopolysaccharidoses; Rats; Sulfur Isotopes; Swine; Time Factors; Tritium

Topics: Child; Chondroitin; Chromatography; Female; Genetics, Medical; Glycosaminoglycans; Heparinoids; Histocytochemistry; Humans; Intellectual Disability; Liver; Microscopy, Electron; Mucopolysaccharidoses

Topics: Adult; Child; Child, Preschool; Chondroitin; Chromatography, Ion Exchange; Female; Glycosaminoglycans; Humans; Intellectual Disability; Male; Mucopolysaccharidoses

Topics: Carbohydrate Metabolism, Inborn Errors; Chondroitin; Glycosaminoglycans; Humans; Intellectual Disability; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa

Topics: Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Chondroitin; Dwarfism; Female; Glycosaminoglycans; Humans; Infant; Intellectual Disability; Male; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa

Topics: Chondroitin; Colorimetry; Glucuronates; Glycosaminoglycans; Humans; Indicators and Reagents; Mucopolysaccharidoses

Topics: Bone and Bones; Bone Marrow; Bone Marrow Cells; Bone Marrow Examination; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chondroitin; Diagnosis, Differential; Female; Genetics; Glucuronates; Glycosaminoglycans; Humans; Hyaluronic Acid; Intellectual Disability; Lymphocytes; Male; Mucopolysaccharidoses; Radiography; Sex Factors

Topics: Chondroitin; Chromatography; Chromatography, Paper; Colorimetry; Diagnosis, Differential; Glycosaminoglycans; Humans; Models, Theoretical; Mucopolysaccharidoses; Mucopolysaccharidosis IV

Topics: Biochemical Phenomena; Biochemistry; Child; Chondroitin; Chromatography; Electrophoresis; Glycolipids; Glycosaminoglycans; Heparin; Humans; Hyaluronic Acid; Metabolism, Inborn Errors; Mucopolysaccharidoses; Mucopolysaccharidosis I; Osteochondrodysplasias; Urine; Urticaria Pigmentosa