Pericellular glycosaminoglycans in cultured human cells. A possible source of error in prenatal diagnosis of Mucopolysaccharidoses

Studies on the pathogenesis of Costello syndrome

“…This test gives a measure for mucopolysaccharide (including chondroitin, heparan, and dermatan sulphate) turnover and detects intracellular and pericellular distribution. 16 We found no abnormality, even when we corrected for the pericellular pool.…”

“…16 [ 35 S]-NaSO 4 incorporation in cells from all five patients, expressed as patient/control ratio, was normal (0.8-1.6). No significant difference was found between the pericellular and the intracellular pool.…”

“…16 This test is a good measure for mucopolysaccharide turnover in fibroblasts and is abnormal in most mucopolysaccharidoses.…”

“…Free sialic acid content was measured according to Mancini et al 18 Sulphate incorporation was measured according to Fortuin and Kleijer. 16 The results represent the ratio between patient and control cell associated radioactivity. We found that free sialic acid is normal in Costello fibroblasts.…”

Prenatal monitoring for the Hunter syndrome: The heterozygous female fetus

“…After 10 days, cell clones in two separate primary cultures were processed for chromosome analysis (Q-banding). The incorporation of 36-sulfate in the intracellular mucopolysaccharide fraction in confluent cultures of amniotic fluid cells and skin fibroblasts was measured according to a modified procedure of Fratantoni et al (1969) (Fortuin & Kleijer 1978).…”