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β ‐Glucuronidase deficiency: Enzyme studies in an affected family and prenatal diagnosis
Author(s) -
Maire I.,
Mandon G.,
Zabot M. T.,
Mathieu M.,
Guibaud P.
Publication year - 1979
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799071
Subject(s) - prenatal diagnosis , amniotic fluid , glucuronidase , fetus , enzyme , mucopolysaccharidosis , heterozygote advantage , enzyme deficiency , population , human genetics , medicine , pregnancy , genetic counseling , enzyme assay , physiology , biology , endocrinology , genetics , biochemistry , genotype , gene , environmental health
A β ‐glucuronidase deficiency found in serum, leukocytes and fibroblasts and an increased [ 35 S]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, decreased β ‐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.