Abstract
Aβ-glucuronidase deficiency found in serum, leukocytes and fibroblasts and an increased [35S]sulphate incorporation in fibroblasts led us to diagnose two cases of type VII mucopolysaccharidosis in one family. In spite of the wide distribution of activities in serum from controls, decreasedβ-glucuronidase activity allowed us to demonstrate the heterozygous status of the parents and two other children. Following these studies, an antenatal diagnosis was performed when the mother was pregnant again; amniotic fluid and cultured amniotic cells were used for enzyme activity determination. A heterozygous fetus was suspected and confirmed after birth. The reliability of various biological materials for enzymatic diagnosis and existence of genetic variants in the normal population are discussed.
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Maire, I., Mandon, G., Zabot, M.T. et al. β-Glucuronidase deficiency: Enzyme studies in an affected family and prenatal diagnosis. J Inherit Metab Dis 2, 29–34 (1979). https://doi.org/10.1007/BF01799071
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DOI: https://doi.org/10.1007/BF01799071