Biochemical diagnosis of mucopolysaccharidoses by estimation of intracellular 35S-sulfate accumulation

The investigation of 35S-sulfate accumulation and of 35SO4-labelled glycosaminoglucane molecules (chase-experiments) in cultured cells was used in post- and prenatal diagnosis of mucopolysaccharidosis (MPS). Cell lines which accumulate 35S-sulfate can be differentiated by means of cross correction or measurement of enzyme activity. 34 patients with the MPS type I, II, III A, III B and VI, respectively, were diagnosed in this way. Four pregnancies at risk for MPS were prenatally monitored by the sulfate accumulation in cultured amniotic fluid cells. One fetus suffering from MPS II was found. (author)