Abstract
Mucolipidosis II (ML II, I-cell disease) is a fatal inborn error of metabolism with altered levels of certain lysosomal hydrolases. In a pregnancy at risk, in which ML II was suspected, we were able to monitor the activity of several lysosomal hydrolases in cultured amniotic fluid cells and in amniotic fluid. In amniotic fluid an increase in hydrolase activity was observed, whereas cultured amniotic cells showed a decrease, together with an accumulation of 35S-labeled glycosaminoglycans (35S GAGs). The pregnancy was therefore interrupted in the 22nd gestational week. The diagnosis was clearly confirmed by analysis of material from the aborted fetus. In fetal serum the activities of several lysosomal hydrolases were elevated approximately 10 to 70-fold, whereas the enzyme levels in fetal fibroblasts were considerably reduced. There was also an excessive accumulation of 35S GAGs in fetal fibroblasts. Our results, and those of others (Aula et al, J.Pediat. 87, 1975; Huijing et al, Clin.Chim.Acta 44, 1973;Matsuda et al, Humangenetik 30 1975), indicate that increased levels of these enzymes in amniotic fluid may suffice as a prenatal diagnosis of ML II. However, due to considerable variations between individual samples, the diagnosis should also be confirmed by analyses of these enzymes and by 35S incorporation studies in cultured amniotic cells.
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Gehler, J., Cantz, M. & Spranger, J. 72: The diagnosis of mucolipidosis II in a pregnancy at risk by studies on amniotic materials. Pediatr Res 10, 882 (1976). https://doi.org/10.1203/00006450-197610000-00066
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DOI: https://doi.org/10.1203/00006450-197610000-00066