Summary
A phenotypically normal mother of a mucopolysaccharidosis VII child, is reported with an unusually lowβ-glucuronidase activity. Low enzyme activity was systemic (6–10% of controls) and residualβ-glucuronidase in leukocytes had an apparently normalK m value. [35S]sulphate incorporation and chase assays in fibroblasts gave values similar to control cells. A normal excretion pattern of glycosaminoglycan was found in this woman's urine. Low enzymatic activity can be related to a non-pathological ‘pseudodeficiency’ allele forβ-glucuronidase; this woman appears to be an apparent compound heterozygote for this allele and mucopolysaccharidosis VII. Her next pregnancy was monitored by chorionic villus sampling and a heterozygous fetus was suspected. These studies stress the need for complete enzyme investigations of obligate carriers for mucopolysaccharidoses in order to prevent difficulties at prenatal analysis.
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Chabas, A., Giros, M.L. & Guardiola, A. Lowβ-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII. J Inherit Metab Dis 14, 908–914 (1991). https://doi.org/10.1007/BF01800472
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DOI: https://doi.org/10.1007/BF01800472