Chondroitin sulfates of the epiphysial cartilages of different mammals.

1. The distribution chondroitin 4- and 6-sulfates in the epiphysial cartilages of several mammals are reported. 2.

Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs.

We report a brother and sister with Dyggye-Melchior-Clausen dysplasia with mental retardation (MR) but as yet without spinal cord injury due to cervical spine abnormality. Mucopolysaccharide metabolism was studied in several ways and was found to be normal. Segregation analysis and study of consanguinity data confirm that both forms of the syndrome--that with MR, and that without MR (Smith-McCort dysplasia) are rare autosomal recessives.

Sulfated glycosaminoglycans of cells grown in culture: dermatan sulfate disappearance in successive fibroblast subcultures.

Sulfated glycosaminoglycan content of primary cultures of guinea pig embryo fibroblast in reported. It is shown that changes of sulfated glycosaminoglycans occur in successive subcultures: 1) disappearance of dermatan sulfate and 2) a slight increase in the proportion of heparitin sulfate. The sulfated glycosaminoglycan composition of the mammalian cell established lines: VERO, SIRK, Hep-2, MK-2, BGM, IB-RS-11 (S6) and 3T6 is also reported.

Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: a possible error of chondroitin-6-sulfate synthesis.

Two male and two female sibs with an unusual form of spondyloepiphyseal dysplasia were reported. The main clinical features were low stature, moderate shortness of trunk and neck, abnormal span: height ratio, low-normal UBS: LBS ratio, and peripheral corneal punctate opacities only seen by the slitlamp. Normal mental status was present.

Differentiation of mucopolysaccharidoses by analyses of the excreted sulfated mucopolysaccharides.

Analyses of sulfated mucopolysaccharides excreted by patients with Hunter, Hurler, Scheie, Sanfilippo A and Sanfilippo B syndromes are reported. Three distinct methods, namely agarose gel electrophoresis, enzymatic degradation and molecular weight determination, were used in an attempt to differentiate the mucopolysaccharidoses by analysis of the urinary mucopolysaccharides. It is shown that by the combination of these methods it is possible to differentiate most of the syndromes and also to demonstrated that some patients with the same syndrome excrete different types of sulfated mucopolysaccharides.

Urinary mucopolysaccharides in acheiropodia.

Urinary mucopolysaccharides from three patients with acheiropodia were qualitatively and quantitatively analysed by agar gel electrophoresis coupled with enzymatic degradation. Although no abnormal pattern was characterized, eventual metabolic dysfunction detected only in bone/cartilage tissues could not be ruled out.

The distribution of chondroitin sulfates in articular and growth cartilages of human bones.

The relative contents of chondroitin 4- and 6-sulfates in cartilages of different human bones are reported. Articular and vertebral body cartilages contain almost exclusively chondroitin 6-sulfate, whereas growth and subarticular cartilages contain nearly equal amounts of chondroitin 4-sulfate and chondroitin 6-sulfate. Adult cartilages, where the calcification process is complete, contain only chondroitin 6-sulfate.