Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three families

Summary Modifications of the assay method of Aminoff (1961) for the determination of sialic acid levels in urine, amniotic fluid, cultured cell homogenates and tissue homogenates, which reduce the interference from proteins by precipitation and from interfering chromogens by second derivative spectroscopy are described.Biochemical profiles of patients from three families with different clinical forms of sialic acid storage disease were made using data obtained with the new method. A family with two patients with the clinically severe, early-onset form is described, in which a 9-fold elevation of sialic acid can be detected in the skin fibroblasts and a 12-fold elevation in the urine. A patient from the second family is described with very severe clinical features and with 160-fold and 16-fold elevations of sialic acid in the urine and skin fibroblasts respectively. A patient from a third family is described with mild clinical features but with a 160-fold and 6-fold elevation of sialic acid in urine and skin fibroblasts respectively. The data obtained in this study are compared with data obtained in other laboratories on other patients.The method was used to assess the levels of sialic acid present in amniotic cells and chorionic villus cells obtained prenatally from pregnancies in each of the three families. In one case, in which amniotic cells were elevated in sialic acid and were vacuolated, the pregnancy was terminated. Follow-up studies confirmed the diagnosis. Pregnancies from the other two families were assessed to be not affected.