chondroitin and Metabolism--Inborn-Errors

In order to investigate the involvement of cartilage proteoglycans in the pathogenesis of human congenital skeletal disorders, proteoglycans were extracted with 4 M guanidine HCl from the iliac crest cartilage of children with various skeletal diseases; lysosomal storage diseases (group I), osteochondrodysplasias (group II) and controls (group III). The cartilage-type proteoglycan (PG-H) was purified and its chondroitin sulfate moiety was analyzed by digestion with chondroitinase-ABC. In group II and group III, the relative amounts of the unsaturated disaccharide products changed in an age-related manner; decrease (from 50% to 30%) of delta Di-4S with a compensatory increase (from 40% to 60%) of delta Di-6S with increasing age from 0 to 15 years. On the other hand, some cases in group I showed aberrant composition of the disaccharide products; a lower content of delta Di-4S with a correspondingly higher content of delta Di-6S. Patients in group I have clinically similar skeletal disorders, and the extent of the compositional abnormality seems to reflect the severity of the skeletal disorder. Therefore, one may consider that the aberrant composition of the glycosaminoglycans in PG-H is involved in the pathogenesis of the skeletal disorder of lysosomal storage diseases.

Topics: Adolescent; Bone Diseases; Cartilage; Child; Child, Preschool; Chondroitin; Chondroitin Sulfates; Chromatography, Gel; Female; Humans; Ilium; Infant, Newborn; Male; Metabolism, Inborn Errors; Proteoglycans

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

Some thoughts on the ultrastructural genesis of the lesions in macular and lattice corneal dystrophy are reviewed. These two genetically determined diseases of the cornea are symbolized by two chemical complexes, namely glycosaminoglycans and amyloid; they raise many questions about the biologic behavior of the cornea and its constituent cells and matrix stroma. Though the lesions in these two diseases appear to be localized to the cornea, the possibility of other tissues and organs being involved cannot be excluded at present, particularly when one takes into account that adequate postmortem studies have not yet been performed on patients with macular or lattice corneal dystrophy. To distinguish lattice corneal dystrophy from other disorders of the cornea which also contain amyloid, the term primary hereditary corneal amyloidosis is proposed. This terminology would seem appropriate in view of the fact that not all affected members of a family develop lesions with a lattice pattern.

Topics: Amyloid; Chondroitin; Collagen; Cornea; Corneal Dystrophies, Hereditary; Descemet Membrane; Endoplasmic Reticulum; Fibroblasts; Glycosaminoglycans; Histocytochemistry; Humans; Metabolism, Inborn Errors; Staining and Labeling; Vacuoles

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

Topics: Amino Acids; Autoanalysis; Child; Child, Preschool; Chondroitin; Chromatography, Ion Exchange; Electrophoresis; Female; Glycosaminoglycans; Heparin; Humans; Male; Metabolism, Inborn Errors; Prednisolone; Sulfates

Topics: Child, Preschool; Chondroitin; Female; Glycosaminoglycans; Humans; Metabolism, Inborn Errors; Mucopolysaccharidosis I; Sulfates

Topics: Amino Acids; Carbohydrates; Chondroitin; Chromatography; Glycosaminoglycans; Humans; Mass Screening; Metabolism, Inborn Errors; Methods

Topics: Child, Preschool; Chondroitin; Female; Gingival Hyperplasia; Glycosaminoglycans; Histocytochemistry; Humans; Metabolism, Inborn Errors

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

Topics: Antimetabolites; Arthritis; Capillary Permeability; Cell Division; Chondroitin; Drug Therapy; Enzyme Inhibitors; Guinea Pigs; Humans; Hyaluronic Acid; Keratosis; Keratosis, Actinic; Metabolism, Inborn Errors; Psoriasis; Skin; Uracil Nucleotides