chondroitin and Intellectual-Disability

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; 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: Age Factors; Atmospheric Pressure; Burns; Carbohydrate Metabolism, Inborn Errors; Chondroitin; Connective Tissue; Corneal Opacity; Glomerular Filtration Rate; Glycosaminoglycans; Humans; Intellectual Disability; Lupus Erythematosus, Systemic; Mucopolysaccharidosis IV; Neoplasms; Retinitis Pigmentosa

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

The properties of [35S]sulfate-labeled proteoglycans secreted by normal human skin fibroblasts were compared with those synthesized by fibroblasts from three patients with Coffin-Lowry syndrome. 60-80% of secreted radioactive macromolecules from normal fibroblasts were eluted from a Sepharose CL-4B column with a mean Kav-value of 0.56 (pool 2); 3-10% of the radioactivity appeared in the exclusion volume of the column (pool 1). In contrast, 17-60% of the proteoglycans from the patients were found in the void volume. The bulk of remaining material was eluted with a mean Kav-value of 0.47. Pool 2 glycan chains from two patients exhibited an increased hydrodynamic size. Pool 1 from normal cells contained predominantly a glucuronic acid-rich proteodermatan sulfate, iduronic acid amounting for approximately 20% of glucuronic acid. In the respective proteodermatan sulfate from the patients, the relative iduronic acid content was at least 33% of that of glucuronic acid. Pool 2 material of all cell lines was characterized predominantly as iduronic acid-rich proteodermatan sulfate. In the proteoglycans from two patients the content of chondroitin 4-sulfate-derived disaccharides was increased at the expense of 6-sulfated chondroitin disaccharides. Native proteoglycans from the patients were less efficiently endocytosed by fibroblasts than their normal counterparts. Coffin-Lowry fibroblasts had a normal capability to synthesize glycosaminoglycan chains on an artificial acceptor, p-nitrophenyl-beta-D-xyloside. They were also normal in 3'-phosphoadenylylsulfate: chondroitin 4- and 6-sulfotransferase activities.

Topics: Abnormalities, Multiple; Adult; Bone and Bones; Cells, Cultured; Child, Preschool; Chondroitin; Dermatan Sulfate; Fibroblasts; Glucuronates; Glucuronic Acid; Humans; Iduronic Acid; Intellectual Disability; Male; Proteoglycans; Sex Factors; Skin; Skin Diseases; Syndrome

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

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

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

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: 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; 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: 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: Blood Chemical Analysis; Bone and Bones; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chondroitin; Corneal Opacity; Deafness; Diagnosis, Differential; Dwarfism; Facial Expression; Female; Glycosaminoglycans; Heart Diseases; Humans; Infant; Intellectual Disability; Male; Mucopolysaccharidosis I; Mucopolysaccharidosis IV; Radiography; Retinitis Pigmentosa

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

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: Chondroitin; Chromatography, Paper; Down Syndrome; Glycosaminoglycans; Heparin; Humans; Hyaluronic Acid; Intellectual Disability; Metabolism, Inborn Errors; Methods

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: Animals; Carbazoles; Carbohydrate Metabolism, Inborn Errors; Chondroitin; Chromatography, Gel; Circular Dichroism; Glycosaminoglycans; Heparin; Humans; Indoles; Intellectual Disability; Molecular Weight; Mucopolysaccharidosis I; Optical Rotatory Dispersion; Rats; Resorcinols; Sulfuric Acids; Ultraviolet Rays

Topics: Biopsy; Brain Chemistry; Carbohydrate Metabolism, Inborn Errors; Child; Chondroitin; Glycosaminoglycans; Heparin; Humans; Hyaluronoglucosaminidase; Intellectual Disability; Male; Sulfates; Sulfur Isotopes; Transferases

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: 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: 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: Adolescent; Child; Child, Preschool; Chondroitin; Female; Humans; Intellectual Disability; Male; Mucopolysaccharidosis I; Radiography

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: 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: Biopsy; Child, Preschool; Chondroitin; Glycosaminoglycans; Heparinoids; Hepatomegaly; Humans; Intellectual Disability; Lysosomes; Male; Microscopy, Electron; Mucopolysaccharidosis I