chondroitin and Retinitis-Pigmentosa

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

Proteoglycans are involved in a variety of cell-cell and cell-matrix interactions. These include cell adhesion, growth regulation and a number of developmental processes. Their involvement in such interactions may be of particular importance in retinitis pigmentosa (RP) because of the detachment and migration of retinal pigment epithelial (RPE) cells often associated with this condition. Because of these important functions in cell behavior, we have been studying the proteoglycans produced by human RPE and how these may be altered in RP. Confluent cultures of RPE from normal donors and from two donors with dominantly inherited RP were labeled with 3H-glucosamine and 35SO4 and the proteoglycans isolated from the medium, substratum and two cell membrane-associated compartments, designated "EDTA-released" and "cell-associated." The proteoglycans were analyzed for size distribution by Sepharose CL-4B chromatography and for glycosaminoglycan (GAG) composition based on enzymatic and chemical susceptibilities. Differences in size distribution and GAG composition were found between the two cell-associated compartments on normal cells. Retinitis pigmentosa proteoglycans differed from their normal counterparts in corresponding compartments both in size distribution and GAG composition. Most affected were those proteoglycans released from the cell surface by EDTA. These findings may be of importance in retinitis pigmentosa since alterations in these molecules could influence the way RPE cells interact with their microenvironment.

Topics: Adult; Cell Membrane; Cell Movement; Cells, Cultured; Chondroitin; Chromatography, Ion Exchange; Edetic Acid; Glycosaminoglycans; Heparitin Sulfate; Humans; Middle Aged; Pigment Epithelium of Eye; Proteoglycans; Retinitis Pigmentosa

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: 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: 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: 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: 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: 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: Animals; Cattle; Chondroitin; Chromatography, Ion Exchange; Deoxyribonucleases; Electrophoresis, Paper; Fibroblasts; Glycosaminoglycans; Humans; Hydrolysis; Lyases; Mucopolysaccharidosis II; Pancreas; Papain; Peptide Hydrolases; Proteus vulgaris; Retinitis Pigmentosa; Ribonucleases; Skin; Sulfatases

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; 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: Adult; Carbohydrate Metabolism, Inborn Errors; Chondroitin; Eczema; Female; Fibroma; Glycosaminoglycans; Hip Dislocation, Congenital; Humans; Mucopolysaccharidosis I; Muscle Spasticity; Nevus, Pigmented; Psoriasis; Quadriplegia; Retinitis Pigmentosa; Skin Neoplasms; Syndrome

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: Ammonium Sulfate; Cells, Cultured; Chemical Precipitation; Chondroitin; Chromatography, Affinity; Chromatography, Gel; Electrophoresis; Fibroblasts; Glucosamine; Humans; Isoelectric Focusing; Macromolecular Substances; Molecular Weight; Mucopolysaccharidosis II; Proteins; Proteinuria; Retinitis Pigmentosa; Skin; Sulfates; Sulfur Isotopes; Tritium

Topics: Bone and Bones; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chondroitin; Corneal Opacity; Female; Glycosaminoglycans; Heparin; Humans; Male; Radiography; Retinitis Pigmentosa

Glycosaminoglycans were isolated from the urine of three patients with Hurler's, Hunter's and Morquio's syndromes and also from the liver and spleen of the case of Hurler's syndrome by a procedure avoiding further degradation. A method of determining the proportions of dermatan sulphate, heparan sulphate and chondroitin sulphate in each preparation is described. The relative proportions of these glycosaminoglycans in the urine and organs of the case of Hurler's syndrome were very similar. Glycosaminoglycans from the organs were of much lower molecular weight than normal, consisting of single chains of molecular weight about 5000 together with multiples of up to four such chains attached to peptide moieties. The linkage region normally attaching glycosaminoglycan chains to protein in whole protein-polysaccharides of connective tissue was degraded progressively towards serine. The total output and relative proportions of abnormal glycosaminoglycans in the urine were compared in two brothers with Hunter's syndrome examined on two occasions 4 years apart. At comparable ages they excreted about the same amount, and the relative proportions of each glycosaminoglycan remained essentially constant. The composition and chromatographic behaviour of the glycosaminoglycan in the urine from the case of Morquio's syndrome indicated that it consisted of material containing about one-third keratan sulphate and two-thirds chondroitin sulphate as part of the same molecule, as in proteoglycans of cartilage. The total output of glycosaminoglycans, although higher than normal, was considerably less than in other types of Mucopolysaccharidoses.

Topics: Amino Acids; Carbohydrates; Child; Child, Preschool; Chondroitin; Chromatography; Detergents; Glycoproteins; Glycosaminoglycans; Humans; Hyaluronoglucosaminidase; Infant; Liver; Male; Molecular Weight; Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis IV; Pentoses; Pyridinium Compounds; Retinitis Pigmentosa; Solubility; Sulfates

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

Topics: Adult; Bone and Bones; Bronchi; Cartilage; Chondroitin; Collagen; Connective Tissue; Femur; Glycosaminoglycans; Humans; Male; Microscopy, Polarization; Mucopolysaccharidosis I; Mucopolysaccharidosis II; Retinitis Pigmentosa; Ribs; Trachea

Topics: Child, Preschool; Chondroitin; Glycosaminoglycans; Heparin; Humans; Keratins; Male; Mucopolysaccharidosis II; Retinitis Pigmentosa

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: Amino Acids; Aspartic Acid; Bone and Bones; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chondroitin; Chromatography, Ion Exchange; Female; Galactosamine; Glucosamine; Glutamates; Glycine; Glycosaminoglycans; Humans; Hypertrichosis; Joint Diseases; Male; Mucopolysaccharidosis I; Retinitis Pigmentosa; Serine; Uronic Acids

Topics: Adolescent; Child; Child, Preschool; Chondroitin; Chromatography, Ion Exchange; Electrophoresis; Humans; Mucopolysaccharidosis II; Retinitis Pigmentosa; Sulfuric Acids

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

Topics: Child; Chondroitin; Female; Glycosaminoglycans; Heparin; Humans; Male; Mucopolysaccharidosis II; Radiography; 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; 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: 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