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Biomedical subjects

M Cantz

Publications and source records attributed to M Cantz.

At least 73 records · Page 4Linked to original sources
PubMed1976

The radiographic features of mannosidosis.

Skeletal changes seen in 12 patients with mannosidosis included thickened calvaria, ovoid configuration, flattening and hook-shaped deformity of the vertebral bodies, hypoplasia of the inferior portions of the ilia, and mild expansion of the short tubular bones of the hands. The pattern of skeletal changes is that of mild to moderate dysostosis multiplex with considerable intrafamilial variation. The skeletal abnormalities may decrease with age. Correlation of the skeletal abnormalities with clinical and biochemical findings is necessary for a specific diagnosis.

Adolescent↗
PubMed1975

Sandhoff disease: impaired catabolism of sulfated glycosaminoglycans in cultured fibroblasts.

Fibroblasts cultured from the skin of patients with Sandhoff disease accumulate excessive amounts of sulfated glycosaminoglycans because of degradative inadequacy. Only a slight such abnormality in the metabolism of sulfated glycosaminoglycans was seen in fibroblasts from patients with Tay-Sachs disease. The defective glycosaminoglycan catabolism in Sandhoff fibroblasts is specifically corrected by intracellular replacement of beta-N-acetyl-hexosaminidase. Both beta-N-acetyl-hexosaminidase A and B are effective in bringing about such correction, although there seem to be differences in specificity. Our findings suggest that in Sandhoff disease there is an impaired catabolism of glycosaminoglycans in addition to the defect in the degradation of glycosphingolipids.

Acetamides↗
PubMed1973

The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase.

Skin fibroblasts cultured from patients affected with the Hunter syndrome are deficient in the activity of a protein, named the "Hunter corrective factor," that is required for degradation of dermatan and heparan sulfates. We now show that this factor, purified from human urine, removes about 2% of the sulfate residues from [(35)S]mucopolysaccharide accumulated within Hunter fibroblasts; these groups are derived from "oversulfated" regions of the polymer. Acetone-powder extracts of fibroblasts derived from patients with the Hunter syndrome are deficient in this sulfatase, in contrast to similar extracts from fibroblasts of individuals of other genotype. Hunter corrective factor coupled to alpha-L-iduronidase (or alternatively, mixed extracts from Hurler and Hunter fibroblasts) release iduronic acid from 4-O-alpha-L-sulfoiduronosyl-D-sulfoanhydromannose. We conclude that the Hunter corrective factor is a sulfatase for sulfated iduronic acid residues.

Carbohydrate Metabolism, Inborn Errors↗